Canonical Allele Identifier: CA2580076138
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1904752
ClinVar RCV Id: RCV002577845

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107663292A>G , CM000669.2:g.107663292A>G GRCh38
NC_000007.13:g.107303737A>G , CM000669.1:g.107303737A>G GRCh37
NC_000007.12:g.107090973A>G NCBI36
NG_008489.1:g.7658A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.165-4A>G MANE Select ENSP00000494017.1:n.165-4A>G
ENST00000265715.7:c.165-4A>G ENSP00000265715.3:n.165-4A>G
ENST00000440056.1:c.165-4A>G ENSP00000394760.1:n.165-4A>G
NM_000441.1:c.165-4A>G NP_000432.1:n.165-4A>G
XM_005250425.1:c.165-4A>G XP_005250482.1:n.165-4A>G
XM_006716025.2:c.165-4A>G XP_006716088.1:n.165-4A>G
XM_005250425.2:c.165-4A>G XP_005250482.1:n.165-4A>G
XM_006716025.3:c.165-4A>G XP_006716088.1:n.165-4A>G
XM_017012318.1:c.165-4A>G XP_016867807.1:n.165-4A>G
NM_000441.2:c.165-4A>G MANE Select NP_000432.1:n.165-4A>G