Canonical Allele Identifier: CA913111817
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1106179
ClinVar RCV Id: RCV001430813
dbSNP Id: rs1401757719
gnomAD v4: 7-107700079-C-A
MyVariant Identifiers: chr7:g.107340524C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107700079C>A , CM000669.2:g.107700079C>A GRCh38
NC_000007.13:g.107340524C>A , CM000669.1:g.107340524C>A GRCh37
NC_000007.12:g.107127760C>A NCBI36
NG_008489.1:g.44445C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.1615-4C>A MANE Select ENSP00000494017.1:n.1615-4C>A
ENST00000644846.1:c.326-4C>A
ENST00000265715.7:c.1615-4C>A ENSP00000265715.3:n.1615-4C>A
ENST00000477350.5:n.462-4C>A
ENST00000480841.5:n.464-4C>A
NM_000441.1:c.1615-4C>A NP_000432.1:n.1615-4C>A
XM_005250425.1:c.1615-4C>A XP_005250482.1:n.1615-4C>A
XM_005250425.2:c.1615-4C>A XP_005250482.1:n.1615-4C>A
XM_017012318.1:c.1537-4C>A XP_016867807.1:n.1537-4C>A
NM_000441.2:c.1615-4C>A MANE Select NP_000432.1:n.1615-4C>A
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