Canonical Allele Identifier: CA10627918

Gene: SLC26A4

Linked Data

• ClinVar Variation Id: 358505
• ClinVar RCV Id: RCV000368029 ; RCV000404987 ; RCV001513268
• dbSNP Id: rs76894072
• gnomAD v2: 7-107355960-C-A
• gnomAD v3: 7-107715515-C-A
• gnomAD v4: 7-107715515-C-A
• MyVariant Identifiers: chr7:g.107355960C>A (hg19) ; chr7:g.107715515C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107715515C>A , CM000669.2:g.107715515C>A	GRCh38
NC_000007.13:g.107355960C>A , CM000669.1:g.107355960C>A	GRCh37
NC_000007.12:g.107143196C>A	NCBI36
NG_008489.1:g.59881C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.*69C>A MANE Select	ENSP00000494017.1:n.*69C>A
ENST00000644846.1:c.1068C>A
ENST00000265715.7:c.*69C>A	ENSP00000265715.3:n.*69C>A
NM_000441.1:c.*69C>A	NP_000432.1:n.*69C>A
XM_005250425.1:c.*69C>A	XP_005250482.1:n.*69C>A
XM_005250425.2:c.*69C>A	XP_005250482.1:n.*69C>A
XM_017012318.1:c.*69C>A	XP_016867807.1:n.*69C>A
NM_000441.2:c.*69C>A MANE Select	NP_000432.1:n.*69C>A