Canonical Allele Identifier: CA457106180

Gene: SLC26A4

Linked Data

• ClinVar Variation Id: 1556510
• ClinVar RCV Id: RCV002202277
• dbSNP Id: rs1328894191
• gnomAD v3: 7-107715425-T-C
• gnomAD v4: 7-107715425-T-C
• MyVariant Identifiers: chr7:g.107355870T>C (hg19) ; chr7:g.107715425T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107715425T>C , CM000669.2:g.107715425T>C	GRCh38
NC_000007.13:g.107355870T>C , CM000669.1:g.107355870T>C	GRCh37
NC_000007.12:g.107143106T>C	NCBI36
NG_008489.1:g.59791T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.2322T>C MANE Select	ENSP00000494017.1:p.Ala774=
ENST00000644846.1:c.978T>C
ENST00000265715.7:c.2322T>C	ENSP00000265715.3:p.Ala774=
ENST00000492030.2:n.508T>C
NM_000441.1:c.2322T>C	NP_000432.1:p.Ala774=
XM_005250425.1:c.2322T>C	XP_005250482.1:p.Ala774=
XM_005250425.2:c.2322T>C	XP_005250482.1:p.Ala774=
XM_017012318.1:c.2244T>C	XP_016867807.1:p.Ala748=
NM_000441.2:c.2322T>C MANE Select	NP_000432.1:p.Ala774=