Canonical Allele Identifier: CA1732751143
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2801636
ClinVar RCV Id: RCV003676239
dbSNP Id: rs1792137607
gnomAD v4: 7-107710039-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107710039G>A , CM000669.2:g.107710039G>A GRCh38
NC_000007.13:g.107350484G>A , CM000669.1:g.107350484G>A GRCh37
NC_000007.12:g.107137720G>A NCBI36
NG_008489.1:g.54405G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.2090-15G>A MANE Select ENSP00000494017.1:n.2090-15G>A
ENST00000644846.1:c.746-15G>A
ENST00000265715.7:c.2090-15G>A ENSP00000265715.3:n.2090-15G>A
ENST00000492030.2:n.377-116G>A
NM_000441.1:c.2090-15G>A NP_000432.1:n.2090-15G>A
XM_005250425.1:c.2090-15G>A XP_005250482.1:n.2090-15G>A
XM_005250425.2:c.2090-15G>A XP_005250482.1:n.2090-15G>A
XM_017012318.1:c.2012-15G>A XP_016867807.1:n.2012-15G>A
NM_000441.2:c.2090-15G>A MANE Select NP_000432.1:n.2090-15G>A
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