Canonical Allele Identifier: CA368841215

Gene: SLC26A4

Linked Data

• MyVariant Identifiers: chr7:g.107336396T>C (hg19) ; chr7:g.107695951T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107695951T>C , CM000669.2:g.107695951T>C	GRCh38
NC_000007.13:g.107336396T>C , CM000669.1:g.107336396T>C	GRCh37
NC_000007.12:g.107123632T>C	NCBI36
NG_008489.1:g.40317T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.1456T>C MANE Select	ENSP00000494017.1:p.Cys486Arg
ENST00000644846.1:c.167T>C
ENST00000265715.7:c.1456T>C	ENSP00000265715.3:p.Cys486Arg
ENST00000460748.1:n.559T>C
ENST00000477350.5:n.303T>C
ENST00000480841.5:n.305T>C
ENST00000497446.5:n.471T>C
NM_000441.1:c.1456T>C	NP_000432.1:p.Cys486Arg
XM_005250425.1:c.1456T>C	XP_005250482.1:p.Cys486Arg
XM_005250425.2:c.1456T>C	XP_005250482.1:p.Cys486Arg
XM_017012318.1:c.1378T>C	XP_016867807.1:p.Cys460Arg
NM_000441.2:c.1456T>C MANE Select	NP_000432.1:p.Cys486Arg