Canonical Allele Identifier: CA368841221

Gene: SLC26A4

Linked Data

• MyVariant Identifiers: chr7:g.107336399A>C (hg19) ; chr7:g.107695954A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107695954A>C , CM000669.2:g.107695954A>C	GRCh38
NC_000007.13:g.107336399A>C , CM000669.1:g.107336399A>C	GRCh37
NC_000007.12:g.107123635A>C	NCBI36
NG_008489.1:g.40320A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.1459A>C MANE Select	ENSP00000494017.1:p.Ile487Leu
ENST00000644846.1:c.170A>C
ENST00000265715.7:c.1459A>C	ENSP00000265715.3:p.Ile487Leu
ENST00000460748.1:n.562A>C
ENST00000477350.5:n.306A>C
ENST00000480841.5:n.308A>C
ENST00000497446.5:n.474A>C
NM_000441.1:c.1459A>C	NP_000432.1:p.Ile487Leu
XM_005250425.1:c.1459A>C	XP_005250482.1:p.Ile487Leu
XM_005250425.2:c.1459A>C	XP_005250482.1:p.Ile487Leu
XM_017012318.1:c.1381A>C	XP_016867807.1:p.Ile461Leu
NM_000441.2:c.1459A>C MANE Select	NP_000432.1:p.Ile487Leu