Canonical Allele Identifier: CA368841212

Gene: SLC26A4

Linked Data

• gnomAD v4: 7-107695949-C-A
• MyVariant Identifiers: chr7:g.107336394C>A (hg19) ; chr7:g.107695949C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107695949C>A , CM000669.2:g.107695949C>A	GRCh38
NC_000007.13:g.107336394C>A , CM000669.1:g.107336394C>A	GRCh37
NC_000007.12:g.107123630C>A	NCBI36
NG_008489.1:g.40315C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.1454C>A MANE Select	ENSP00000494017.1:p.Thr485Lys
ENST00000644846.1:c.165C>A
ENST00000265715.7:c.1454C>A	ENSP00000265715.3:p.Thr485Lys
ENST00000460748.1:n.557C>A
ENST00000477350.5:n.301C>A
ENST00000480841.5:n.303C>A
ENST00000497446.5:n.469C>A
NM_000441.1:c.1454C>A	NP_000432.1:p.Thr485Lys
XM_005250425.1:c.1454C>A	XP_005250482.1:p.Thr485Lys
XM_005250425.2:c.1454C>A	XP_005250482.1:p.Thr485Lys
XM_017012318.1:c.1376C>A	XP_016867807.1:p.Thr459Lys
NM_000441.2:c.1454C>A MANE Select	NP_000432.1:p.Thr485Lys