Canonical Allele Identifier: CA368841222

Gene: SLC26A4

Linked Data

• gnomAD v4: 7-107695954-A-G
• MyVariant Identifiers: chr7:g.107336399A>G (hg19) ; chr7:g.107695954A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.1459A>G MANE Select	ENSP00000494017.1:p.Ile487Val
ENST00000644846.1:c.170A>G
ENST00000265715.7:c.1459A>G	ENSP00000265715.3:p.Ile487Val
ENST00000460748.1:n.562A>G
ENST00000477350.5:n.306A>G
ENST00000480841.5:n.308A>G
ENST00000497446.5:n.474A>G
NM_000441.1:c.1459A>G	NP_000432.1:p.Ile487Val
XM_005250425.1:c.1459A>G	XP_005250482.1:p.Ile487Val
XM_005250425.2:c.1459A>G	XP_005250482.1:p.Ile487Val
XM_017012318.1:c.1381A>G	XP_016867807.1:p.Ile461Val
NM_000441.2:c.1459A>G MANE Select	NP_000432.1:p.Ile487Val