Canonical Allele Identifier: CA253307
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 4825
dbSNP Id: rs121908362

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107710132A>G , CM000669.2:g.107710132A>G GRCh38
NC_000007.13:g.107350577A>G , CM000669.1:g.107350577A>G GRCh37
NC_000007.12:g.107137813A>G NCBI36
NG_008489.1:g.54498A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.2168A>G MANE Select ENSP00000494017.1:p.His723Arg
ENST00000644846.1:c.824A>G
ENST00000265715.7:c.2168A>G ENSP00000265715.3:p.His723Arg
ENST00000492030.2:n.377-23A>G
NM_000441.1:c.2168A>G NP_000432.1:p.His723Arg
XM_005250425.1:c.2168A>G XP_005250482.1:p.His723Arg
XM_005250425.2:c.2168A>G XP_005250482.1:p.His723Arg
XM_017012318.1:c.2090A>G XP_016867807.1:p.His697Arg
NM_000441.2:c.2168A>G MANE Select NP_000432.1:p.His723Arg