Canonical Allele Identifier: CA368841175

Gene: SLC26A4

Linked Data

• MyVariant Identifiers: chr7:g.107336378G>T (hg19) ; chr7:g.107695933G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107695933G>T , CM000669.2:g.107695933G>T	GRCh38
NC_000007.13:g.107336378G>T , CM000669.1:g.107336378G>T	GRCh37
NC_000007.12:g.107123614G>T	NCBI36
NG_008489.1:g.40299G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.1438G>T MANE Select	ENSP00000494017.1:p.Val480Phe
ENST00000644846.1:c.149G>T
ENST00000265715.7:c.1438G>T	ENSP00000265715.3:p.Val480Phe
ENST00000460748.1:n.541G>T
ENST00000477350.5:n.285G>T
ENST00000480841.5:n.287G>T
ENST00000497446.5:n.453G>T
NM_000441.1:c.1438G>T	NP_000432.1:p.Val480Phe
XM_005250425.1:c.1438G>T	XP_005250482.1:p.Val480Phe
XM_005250425.2:c.1438G>T	XP_005250482.1:p.Val480Phe
XM_017012318.1:c.1360G>T	XP_016867807.1:p.Val454Phe
NM_000441.2:c.1438G>T MANE Select	NP_000432.1:p.Val480Phe