Canonical Allele Identifier: CA4432771
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1111004
ClinVar RCV Id: RCV001832559
dbSNP Id: rs778271465
ExAC: 7:107334871 G / A
gnomAD v2: 7-107334871-G-A
gnomAD v3: 7-107694426-G-A
gnomAD v4: 7-107694426-G-A
COSMIC: COSM4774111
MyVariant Identifiers: chr7:g.107334871G>A (hg19) chr7:g.107694426G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107694426G>A , CM000669.2:g.107694426G>A GRCh38
NC_000007.13:g.107334871G>A , CM000669.1:g.107334871G>A GRCh37
NC_000007.12:g.107122107G>A NCBI36
NG_008489.1:g.38792G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.1287G>A MANE Select ENSP00000494017.1:p.Ala429=
ENST00000265715.7:c.1287G>A ENSP00000265715.3:p.Ala429=
ENST00000460748.1:n.390G>A
ENST00000477350.5:n.189-195G>A
ENST00000480841.5:n.136G>A
ENST00000497446.5:n.302G>A
NM_000441.1:c.1287G>A NP_000432.1:p.Ala429=
XM_005250425.1:c.1287G>A XP_005250482.1:p.Ala429=
XM_005250425.2:c.1287G>A XP_005250482.1:p.Ala429=
XM_017012318.1:c.1264-195G>A XP_016867807.1:n.1264-195G>A
NM_000441.2:c.1287G>A MANE Select NP_000432.1:p.Ala429=
Search 100 bp 5'
Search 100 bp 3'