Canonical Allele Identifier: CA4432825

Gene: SLC26A4

Linked Data

• ClinVar Variation Id: 1390239
• ClinVar RCV Id: RCV001889500 ; RCV002553560
• dbSNP Id: rs774182356
• ExAC: 7:107336385 G / C
• gnomAD v2: 7-107336385-G-C
• gnomAD v3: 7-107695940-G-C
• gnomAD v4: 7-107695940-G-C
• MyVariant Identifiers: chr7:g.107336385G>C (hg19) ; chr7:g.107695940G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107695940G>C , CM000669.2:g.107695940G>C	GRCh38
NC_000007.13:g.107336385G>C , CM000669.1:g.107336385G>C	GRCh37
NC_000007.12:g.107123621G>C	NCBI36
NG_008489.1:g.40306G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.1445G>C MANE Select	ENSP00000494017.1:p.Trp482Ser
ENST00000644846.1:c.156G>C
ENST00000265715.7:c.1445G>C	ENSP00000265715.3:p.Trp482Ser
ENST00000460748.1:n.548G>C
ENST00000477350.5:n.292G>C
ENST00000480841.5:n.294G>C
ENST00000497446.5:n.460G>C
NM_000441.1:c.1445G>C	NP_000432.1:p.Trp482Ser
XM_005250425.1:c.1445G>C	XP_005250482.1:p.Trp482Ser
XM_005250425.2:c.1445G>C	XP_005250482.1:p.Trp482Ser
XM_017012318.1:c.1367G>C	XP_016867807.1:p.Trp456Ser
NM_000441.2:c.1445G>C MANE Select	NP_000432.1:p.Trp482Ser