Canonical Allele Identifier: CA368847341

Gene: SLC26A4

Linked Data

• dbSNP Id: rs1377149068
• gnomAD v2: 7-107355875-G-C
• gnomAD v3: 7-107715430-G-C
• gnomAD v4: 7-107715430-G-C
• MyVariant Identifiers: chr7:g.107355875G>C (hg19) ; chr7:g.107715430G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107715430G>C , CM000669.2:g.107715430G>C	GRCh38
NC_000007.13:g.107355875G>C , CM000669.1:g.107355875G>C	GRCh37
NC_000007.12:g.107143111G>C	NCBI36
NG_008489.1:g.59796G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.2327G>C MANE Select	ENSP00000494017.1:p.Arg776Pro
ENST00000644846.1:c.983G>C
ENST00000265715.7:c.2327G>C	ENSP00000265715.3:p.Arg776Pro
ENST00000492030.2:n.513G>C
NM_000441.1:c.2327G>C	NP_000432.1:p.Arg776Pro
XM_005250425.1:c.2327G>C	XP_005250482.1:p.Arg776Pro
XM_005250425.2:c.2327G>C	XP_005250482.1:p.Arg776Pro
XM_017012318.1:c.2249G>C	XP_016867807.1:p.Arg750Pro
NM_000441.2:c.2327G>C MANE Select	NP_000432.1:p.Arg776Pro