Canonical Allele Identifier: CA368841182

Gene: SLC26A4

Linked Data

• gnomAD v4: 7-107695936-A-G
• MyVariant Identifiers: chr7:g.107336381A>G (hg19) ; chr7:g.107695936A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107695936A>G , CM000669.2:g.107695936A>G	GRCh38
NC_000007.13:g.107336381A>G , CM000669.1:g.107336381A>G	GRCh37
NC_000007.12:g.107123617A>G	NCBI36
NG_008489.1:g.40302A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.1441A>G MANE Select	ENSP00000494017.1:p.Ile481Val
ENST00000644846.1:c.152A>G
ENST00000265715.7:c.1441A>G	ENSP00000265715.3:p.Ile481Val
ENST00000460748.1:n.544A>G
ENST00000477350.5:n.288A>G
ENST00000480841.5:n.290A>G
ENST00000497446.5:n.456A>G
NM_000441.1:c.1441A>G	NP_000432.1:p.Ile481Val
XM_005250425.1:c.1441A>G	XP_005250482.1:p.Ile481Val
XM_005250425.2:c.1441A>G	XP_005250482.1:p.Ile481Val
XM_017012318.1:c.1363A>G	XP_016867807.1:p.Ile455Val
NM_000441.2:c.1441A>G MANE Select	NP_000432.1:p.Ile481Val