Canonical Allele Identifier: CA4432982
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 229255
ClinVar RCV Id: RCV000219513 RCV001159885 RCV001159886 RCV002518206
dbSNP Id: rs375645779
ExAC: 7:107342377 C / A
gnomAD v2: 7-107342377-C-A
gnomAD v3: 7-107701932-C-A
gnomAD v4: 7-107701932-C-A
MyVariant Identifiers: chr7:g.107342377C>A (hg19) chr7:g.107701932C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107701932C>A , CM000669.2:g.107701932C>A GRCh38
NC_000007.13:g.107342377C>A , CM000669.1:g.107342377C>A GRCh37
NC_000007.12:g.107129613C>A NCBI36
NG_008489.1:g.46298C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.1909C>A MANE Select ENSP00000494017.1:p.Gln637Lys
ENST00000644846.1:c.620C>A
ENST00000265715.7:c.1909C>A ENSP00000265715.3:p.Gln637Lys
ENST00000492030.2:n.196C>A
NM_000441.1:c.1909C>A NP_000432.1:p.Gln637Lys
XM_005250425.1:c.1909C>A XP_005250482.1:p.Gln637Lys
XM_005250425.2:c.1909C>A XP_005250482.1:p.Gln637Lys
XM_017012318.1:c.1831C>A XP_016867807.1:p.Gln611Lys
NM_000441.2:c.1909C>A MANE Select NP_000432.1:p.Gln637Lys
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