Canonical Allele Identifier: CA164210552
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1193249
ClinVar RCV Id: RCV001555589
dbSNP Id: rs56782513
gnomAD v2: 7-107329836-T-A
gnomAD v3: 7-107689391-T-A
gnomAD v4: 7-107689391-T-A
MyVariant Identifiers: chr7:g.107329836T>A (hg19) chr7:g.107689391T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107689391T>A , CM000669.2:g.107689391T>A GRCh38
NC_000007.13:g.107329836T>A , CM000669.1:g.107329836T>A GRCh37
NC_000007.12:g.107117072T>A NCBI36
NG_008489.1:g.33757T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.1149+191T>A MANE Select ENSP00000494017.1:n.1149+191T>A
ENST00000265715.7:c.1149+191T>A ENSP00000265715.3:n.1149+191T>A
NM_000441.1:c.1149+191T>A NP_000432.1:n.1149+191T>A
XM_005250425.1:c.1149+191T>A XP_005250482.1:n.1149+191T>A
XM_006716025.2:c.1149+191T>A XP_006716088.1:n.1149+191T>A
XM_005250425.2:c.1149+191T>A XP_005250482.1:n.1149+191T>A
XM_006716025.3:c.1149+191T>A XP_006716088.1:n.1149+191T>A
XM_017012318.1:c.1149+191T>A XP_016867807.1:n.1149+191T>A
NM_000441.2:c.1149+191T>A MANE Select NP_000432.1:n.1149+191T>A
Search 100 bp 5'
Search 100 bp 3'