Canonical Allele Identifier: CA368840460

Gene: SLC26A4

Linked Data

• MyVariant Identifiers: chr7:g.107334921A>T (hg19) ; chr7:g.107694476A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107694476A>T , CM000669.2:g.107694476A>T	GRCh38
NC_000007.13:g.107334921A>T , CM000669.1:g.107334921A>T	GRCh37
NC_000007.12:g.107122157A>T	NCBI36
NG_008489.1:g.38842A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.1337A>T MANE Select	ENSP00000494017.1:p.Gln446Leu
ENST00000644846.1:c.48A>T
ENST00000265715.7:c.1337A>T	ENSP00000265715.3:p.Gln446Leu
ENST00000460748.1:n.440A>T
ENST00000477350.5:n.189-145A>T
ENST00000480841.5:n.186A>T
ENST00000497446.5:n.352A>T
NM_000441.1:c.1337A>T	NP_000432.1:p.Gln446Leu
XM_005250425.1:c.1337A>T	XP_005250482.1:p.Gln446Leu
XM_005250425.2:c.1337A>T	XP_005250482.1:p.Gln446Leu
XM_017012318.1:c.1264-145A>T	XP_016867807.1:n.1264-145A>T
NM_000441.2:c.1337A>T MANE Select	NP_000432.1:p.Gln446Leu