Canonical Allele Identifier: CA457096530

Gene: SLC26A4

Linked Data

• ClinVar Variation Id: 2015073
• ClinVar RCV Id: RCV002846171
• MyVariant Identifiers: chr7:g.107336474A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107696029A>C , CM000669.2:g.107696029A>C	GRCh38
NC_000007.13:g.107336474A>C , CM000669.1:g.107336474A>C	GRCh37
NC_000007.12:g.107123710A>C	NCBI36
NG_008489.1:g.40395A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.1534A>C MANE Select	ENSP00000494017.1:p.Arg512=
ENST00000644846.1:c.245A>C
ENST00000265715.7:c.1534A>C	ENSP00000265715.3:p.Arg512=
ENST00000477350.5:n.381A>C
ENST00000480841.5:n.383A>C
ENST00000497446.5:n.549A>C
NM_000441.1:c.1534A>C	NP_000432.1:p.Arg512=
XM_005250425.1:c.1534A>C	XP_005250482.1:p.Arg512=
XM_005250425.2:c.1534A>C	XP_005250482.1:p.Arg512=
XM_017012318.1:c.1456A>C	XP_016867807.1:p.Arg486=
NM_000441.2:c.1534A>C MANE Select	NP_000432.1:p.Arg512=