Canonical Allele Identifier: CA4432368
Gene: SLC26A4 HGNC NCBI
SLC26A4-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 504923
dbSNP Id: rs372116042

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107661769G>A , CM000669.2:g.107661769G>A GRCh38
NC_000007.13:g.107302214G>A , CM000669.1:g.107302214G>A GRCh37
NC_000007.12:g.107089450G>A NCBI36
NG_008489.1:g.6135G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.128G>A (SLC26A4) MANE Select ENSP00000494017.1:p.Arg43His
ENST00000265715.7:c.128G>A (SLC26A4) ENSP00000265715.3:p.Arg43His
ENST00000440056.1:c.128G>A (SLC26A4) ENSP00000394760.1:p.Arg43His
NM_000441.1:c.128G>A (SLC26A4) NP_000432.1:p.Arg43His
NR_028137.1:n.30C>T (SLC26A4-AS1)
XM_005250425.1:c.128G>A (SLC26A4) XP_005250482.1:p.Arg43His
XM_006716025.2:c.128G>A (SLC26A4) XP_006716088.1:p.Arg43His
XM_005250425.2:c.128G>A (SLC26A4) XP_005250482.1:p.Arg43His
XM_006716025.3:c.128G>A (SLC26A4) XP_006716088.1:p.Arg43His
XM_017012318.1:c.128G>A (SLC26A4) XP_016867807.1:p.Arg43His
NM_000441.2:c.128G>A (SLC26A4) MANE Select NP_000432.1:p.Arg43His