Canonical Allele Identifier: CA12951936
Gene: CDKN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 873184
ClinVar RCV Id: RCV001250973 RCV001595065
dbSNP Id: rs3814960
gnomAD v2: 9-21975017-C-T
gnomAD v3: 9-21975018-C-T
gnomAD v4: 9-21975018-C-T
MyVariant Identifiers: chr9:g.21975017C>T (hg19) chr9:g.21975018C>T (hg38)
CIViC: CA12951936
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21975018C>T , CM000671.2:g.21975018C>T GRCh38
NC_000009.11:g.21975017C>T , CM000671.1:g.21975017C>T GRCh37
NC_000009.10:g.21965017C>T NCBI36
NG_007485.1:g.24474G>A , LRG_11:g.24474G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000404796.3:c.348-54415C>T ENSP00000385916.2:n.348-54415C>T
ENST00000579755.2:c.194-3810G>A MANE Plus Clinical ENSP00000462950.1:n.194-3810G>A
ENST00000304494.9:c.-191G>A ENSP00000307101.5:n.-191G>A
ENST00000361570.4:c.194-3810G>A ENSP00000355153.4:n.194-3810G>A
ENST00000404796.2:c.348-54415C>T ENSP00000385916.2:n.348-54415C>T
ENST00000494262.5:c.-3-3810G>A ENSP00000464952.1:n.-3-3810G>A
ENST00000498628.6:c.-3-3810G>A ENSP00000467857.1:n.-3-3810G>A
ENST00000530628.2:c.194-3810G>A ENSP00000432664.2:n.194-3810G>A
ENST00000579755.1:c.194-3810G>A ENSP00000462950.1:n.194-3810G>A
NM_000077.4:c.-191G>A , LRG_11t1:c.-191G>A NP_000068.1:n.-191G>A
NM_001195132.1:c.-191G>A NP_001182061.1:n.-191G>A
NM_058195.3:c.194-3810G>A , LRG_11t2:c.194-3810G>A NP_478102.2:n.194-3810G>A
XM_011517675.1:c.-191G>A XP_011515977.1:n.-191G>A
XM_011517676.1:c.-191G>A XP_011515978.1:n.-191G>A
XM_011517679.1:c.-3-3810G>A XP_011515981.1:n.-3-3810G>A
XR_929159.1:n.211G>A
XR_929161.1:n.341-3810G>A
XR_929162.1:n.341-3810G>A
XR_929163.1:n.290-3810G>A
NM_001363763.1:c.-3-3810G>A NP_001350692.1:n.-3-3810G>A
XM_011517675.2:c.-191G>A XP_011515977.1:n.-191G>A
XM_011517676.2:c.-191G>A XP_011515978.1:n.-191G>A
XR_929159.2:n.140G>A
NM_001363763.2:c.-3-3810G>A NP_001350692.1:n.-3-3810G>A
NM_058195.4:c.194-3810G>A MANE Plus Clinical NP_478102.2:n.194-3810G>A
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