Canonical Allele Identifier: CA368841178
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1064674
ClinVar RCV Id: RCV001374700

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107695934T>A , CM000669.2:g.107695934T>A GRCh38
NC_000007.13:g.107336379T>A , CM000669.1:g.107336379T>A GRCh37
NC_000007.12:g.107123615T>A NCBI36
NG_008489.1:g.40300T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.1439T>A MANE Select ENSP00000494017.1:p.Val480Asp
ENST00000644846.1:n.150T>A
ENST00000265715.7:c.1439T>A ENSP00000265715.3:p.Val480Asp
ENST00000460748.1:n.542T>A
ENST00000477350.5:n.286T>A
ENST00000480841.5:n.288T>A
ENST00000497446.5:n.454T>A
NM_000441.1:c.1439T>A NP_000432.1:p.Val480Asp
XM_005250425.1:c.1439T>A XP_005250482.1:p.Val480Asp
XM_005250425.2:c.1439T>A XP_005250482.1:p.Val480Asp
XM_017012318.1:c.1361T>A XP_016867807.1:p.Val454Asp
NM_000441.2:c.1439T>A MANE Select NP_000432.1:p.Val480Asp