Canonical Allele Identifier: CA8069973

Gene: SLC12A3

Linked Data

• ClinVar Variation Id: 1093430
• ClinVar RCV Id: RCV001413599
• dbSNP Id: rs771944220
• ExAC: 16:56928513 C / T
• gnomAD v2: 16-56928513-C-T
• gnomAD v3: 16-56894601-C-T
• gnomAD v4: 16-56894601-C-T
• COSMIC: COSM2152138
• MyVariant Identifiers: chr16:g.56928513C>T (hg19) ; chr16:g.56894601C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56894601C>T , CM000678.2:g.56894601C>T	GRCh38
NC_000016.9:g.56928513C>T , CM000678.1:g.56928513C>T	GRCh37
NC_000016.8:g.55486014C>T	NCBI36
NG_009386.1:g.34395C>T
NG_009386.2:g.34395C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2592C>T MANE Select	ENSP00000456149.2:p.Phe864=
ENST00000262502.5:c.2589C>T	ENSP00000262502.5:p.Phe863=
ENST00000438926.6:c.2619C>T	ENSP00000402152.2:p.Phe873=
ENST00000563236.5:c.2592C>T	ENSP00000456149.1:p.Phe864=
ENST00000566786.5:c.2616C>T	ENSP00000457552.1:p.Phe872=
NM_000339.2:c.2619C>T	NP_000330.2:p.Phe873=
NM_001126107.1:c.2616C>T	NP_001119579.1:p.Phe872=
NM_001126108.1:c.2592C>T	NP_001119580.1:p.Phe864=
XM_005256119.1:c.2589C>T	XP_005256176.1:p.Phe863=
XM_005256119.2:c.2589C>T	XP_005256176.1:p.Phe863=
NM_000339.3:c.2619C>T	NP_000330.3:p.Phe873=
NM_001126107.2:c.2616C>T	NP_001119579.2:p.Phe872=
NM_001126108.2:c.2592C>T MANE Select	NP_001119580.2:p.Phe864=