Canonical Allele Identifier: CA4432933
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2445632
ClinVar RCV Id: RCV003155551
dbSNP Id: rs56017519

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107701123T>G , CM000669.2:g.107701123T>G GRCh38
NC_000007.13:g.107341568T>G , CM000669.1:g.107341568T>G GRCh37
NC_000007.12:g.107128804T>G NCBI36
NG_008489.1:g.45489T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.1730T>G MANE Select ENSP00000494017.1:p.Val577Gly
ENST00000644846.1:c.441T>G
ENST00000265715.7:c.1730T>G ENSP00000265715.3:p.Val577Gly
ENST00000480841.5:n.579T>G
ENST00000492030.2:n.91-704T>G
NM_000441.1:c.1730T>G NP_000432.1:p.Val577Gly
XM_005250425.1:c.1730T>G XP_005250482.1:p.Val577Gly
XM_005250425.2:c.1730T>G XP_005250482.1:p.Val577Gly
XM_017012318.1:c.1652T>G XP_016867807.1:p.Val551Gly
NM_000441.2:c.1730T>G MANE Select NP_000432.1:p.Val577Gly