Canonical Allele Identifier: CA132705
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 43540
dbSNP Id: rs143708308

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107710103T>G , CM000669.2:g.107710103T>G GRCh38
NC_000007.13:g.107350548T>G , CM000669.1:g.107350548T>G GRCh37
NC_000007.12:g.107137784T>G NCBI36
NG_008489.1:g.54469T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.2139T>G MANE Select ENSP00000494017.1:p.Ile713Met
ENST00000644846.1:c.795T>G
ENST00000265715.7:c.2139T>G ENSP00000265715.3:p.Ile713Met
ENST00000492030.2:n.377-52T>G
NM_000441.1:c.2139T>G NP_000432.1:p.Ile713Met
XM_005250425.1:c.2139T>G XP_005250482.1:p.Ile713Met
XM_005250425.2:c.2139T>G XP_005250482.1:p.Ile713Met
XM_017012318.1:c.2061T>G XP_016867807.1:p.Ile687Met
NM_000441.2:c.2139T>G MANE Select NP_000432.1:p.Ile713Met