Canonical Allele Identifier: CA4432923
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 256155
ClinVar RCV Id: RCV000244473 RCV001171532 RCV001512980
dbSNP Id: rs55701254
ExAC: 7:107341528 T / A
gnomAD v2: 7-107341528-T-A
gnomAD v3: 7-107701083-T-A
gnomAD v4: 7-107701083-T-A
MyVariant Identifiers: chr7:g.107341528T>A (hg19) chr7:g.107701083T>A (hg38)
ERepo: CA4432923/MONDO:0010134/005
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107701083T>A , CM000669.2:g.107701083T>A GRCh38
NC_000007.13:g.107341528T>A , CM000669.1:g.107341528T>A GRCh37
NC_000007.12:g.107128764T>A NCBI36
NG_008489.1:g.45449T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.1708-18T>A MANE Select ENSP00000494017.1:n.1708-18T>A
ENST00000644846.1:c.419-18T>A
ENST00000265715.7:c.1708-18T>A ENSP00000265715.3:n.1708-18T>A
ENST00000480841.5:n.557-18T>A
ENST00000492030.2:n.91-744T>A
NM_000441.1:c.1708-18T>A NP_000432.1:n.1708-18T>A
XM_005250425.1:c.1708-18T>A XP_005250482.1:n.1708-18T>A
XM_005250425.2:c.1708-18T>A XP_005250482.1:n.1708-18T>A
XM_017012318.1:c.1630-18T>A XP_016867807.1:n.1630-18T>A
NM_000441.2:c.1708-18T>A MANE Select NP_000432.1:n.1708-18T>A
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