Canonical Allele Identifier: CA4432683
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2136214
ClinVar RCV Id: RCV003037061
dbSNP Id: rs375221085

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107689172A>G , CM000669.2:g.107689172A>G GRCh38
NC_000007.13:g.107329617A>G , CM000669.1:g.107329617A>G GRCh37
NC_000007.12:g.107116853A>G NCBI36
NG_008489.1:g.33538A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.1121A>G MANE Select ENSP00000494017.1:p.Lys374Arg
ENST00000265715.7:c.1121A>G ENSP00000265715.3:p.Lys374Arg
NM_000441.1:c.1121A>G NP_000432.1:p.Lys374Arg
XM_005250425.1:c.1121A>G XP_005250482.1:p.Lys374Arg
XM_006716025.2:c.1121A>G XP_006716088.1:p.Lys374Arg
XM_005250425.2:c.1121A>G XP_005250482.1:p.Lys374Arg
XM_006716025.3:c.1121A>G XP_006716088.1:p.Lys374Arg
XM_017012318.1:c.1121A>G XP_016867807.1:p.Lys374Arg
NM_000441.2:c.1121A>G MANE Select NP_000432.1:p.Lys374Arg