Canonical Allele Identifier: CA368841247

Gene: SLC26A4

Linked Data

• MyVariant Identifiers: chr7:g.107336411A>G (hg19) ; chr7:g.107695966A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107695966A>G , CM000669.2:g.107695966A>G	GRCh38
NC_000007.13:g.107336411A>G , CM000669.1:g.107336411A>G	GRCh37
NC_000007.12:g.107123647A>G	NCBI36
NG_008489.1:g.40332A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.1471A>G MANE Select	ENSP00000494017.1:p.Ile491Val
ENST00000644846.1:c.182A>G
ENST00000265715.7:c.1471A>G	ENSP00000265715.3:p.Ile491Val
ENST00000477350.5:n.318A>G
ENST00000480841.5:n.320A>G
ENST00000497446.5:n.486A>G
NM_000441.1:c.1471A>G	NP_000432.1:p.Ile491Val
XM_005250425.1:c.1471A>G	XP_005250482.1:p.Ile491Val
XM_005250425.2:c.1471A>G	XP_005250482.1:p.Ile491Val
XM_017012318.1:c.1393A>G	XP_016867807.1:p.Ile465Val
NM_000441.2:c.1471A>G MANE Select	NP_000432.1:p.Ile491Val