Canonical Allele Identifier: CA368845995
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1801126
ClinVar RCV Id: RCV002462723
MyVariant Identifiers: chr7:g.107350603C>A (hg19) chr7:g.107710158C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107710158C>A , CM000669.2:g.107710158C>A GRCh38
NC_000007.13:g.107350603C>A , CM000669.1:g.107350603C>A GRCh37
NC_000007.12:g.107137839C>A NCBI36
NG_008489.1:g.54524C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.2194C>A MANE Select ENSP00000494017.1:p.Gln732Lys
ENST00000644846.1:c.850C>A
ENST00000265715.7:c.2194C>A ENSP00000265715.3:p.Gln732Lys
ENST00000492030.2:n.380C>A
NM_000441.1:c.2194C>A NP_000432.1:p.Gln732Lys
XM_005250425.1:c.2194C>A XP_005250482.1:p.Gln732Lys
XM_005250425.2:c.2194C>A XP_005250482.1:p.Gln732Lys
XM_017012318.1:c.2116C>A XP_016867807.1:p.Gln706Lys
NM_000441.2:c.2194C>A MANE Select NP_000432.1:p.Gln732Lys
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