Canonical Allele Identifier: CA4433088
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2975197
ClinVar RCV Id: RCV003830803
dbSNP Id: rs777825822
ExAC: 7:107350658 C / A
gnomAD v2: 7-107350658-C-A
gnomAD v4: 7-107710213-C-A
MyVariant Identifiers: chr7:g.107350658C>A (hg19) chr7:g.107710213C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107710213C>A , CM000669.2:g.107710213C>A GRCh38
NC_000007.13:g.107350658C>A , CM000669.1:g.107350658C>A GRCh37
NC_000007.12:g.107137894C>A NCBI36
NG_008489.1:g.54579C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.2235+14C>A MANE Select ENSP00000494017.1:n.2235+14C>A
ENST00000644846.1:c.891+14C>A
ENST00000265715.7:c.2235+14C>A ENSP00000265715.3:n.2235+14C>A
ENST00000492030.2:n.421+14C>A
NM_000441.1:c.2235+14C>A NP_000432.1:n.2235+14C>A
XM_005250425.1:c.2235+14C>A XP_005250482.1:n.2235+14C>A
XM_005250425.2:c.2235+14C>A XP_005250482.1:n.2235+14C>A
XM_017012318.1:c.2157+14C>A XP_016867807.1:n.2157+14C>A
NM_000441.2:c.2235+14C>A MANE Select NP_000432.1:n.2235+14C>A
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