Canonical Allele Identifier: CA1105620723

Gene: SLC26A4

Linked Data

• dbSNP Id: rs1791871252
• gnomAD v3: 7-107701047-T-C
• gnomAD v4: 7-107701047-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107701047T>C , CM000669.2:g.107701047T>C	GRCh38
NC_000007.13:g.107341492T>C , CM000669.1:g.107341492T>C	GRCh37
NC_000007.12:g.107128728T>C	NCBI36
NG_008489.1:g.45413T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.1708-54T>C MANE Select	ENSP00000494017.1:n.1708-54T>C
ENST00000644846.1:c.419-54T>C
ENST00000265715.7:c.1708-54T>C	ENSP00000265715.3:n.1708-54T>C
ENST00000480841.5:n.557-54T>C
ENST00000492030.2:n.91-780T>C
NM_000441.1:c.1708-54T>C	NP_000432.1:n.1708-54T>C
XM_005250425.1:c.1708-54T>C	XP_005250482.1:n.1708-54T>C
XM_005250425.2:c.1708-54T>C	XP_005250482.1:n.1708-54T>C
XM_017012318.1:c.1630-54T>C	XP_016867807.1:n.1630-54T>C
NM_000441.2:c.1708-54T>C MANE Select	NP_000432.1:n.1708-54T>C