Canonical Allele Identifier: CA16041112
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 370721
ClinVar RCV Id: RCV000411152
dbSNP Id: rs1057516717

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107695931A>G , CM000669.2:g.107695931A>G GRCh38
NC_000007.13:g.107336376A>G , CM000669.1:g.107336376A>G GRCh37
NC_000007.12:g.107123612A>G NCBI36
NG_008489.1:g.40297A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.1438-2A>G MANE Select ENSP00000494017.1:p.=
ENST00000644846.1:n.149-2A>G
ENST00000265715.7:c.1438-2A>G ENSP00000265715.3:p.=
ENST00000460748.1:n.541-2A>G
ENST00000477350.5:n.285-2A>G
ENST00000480841.5:n.287-2A>G
ENST00000497446.5:n.453-2A>G
NM_000441.1:c.1438-2A>G NP_000432.1:p.=
XM_005250425.1:c.1438-2A>G XP_005250482.1:p.=
XM_005250425.2:c.1438-2A>G XP_005250482.1:p.=
XM_017012318.1:c.1360-2A>G XP_016867807.1:p.=
NM_000441.2:c.1438-2A>G MANE Select NP_000432.1:p.=