Canonical Allele Identifier: CA7547537

Gene: SLC12A1

Linked Data

• ClinVar Variation Id: 450686
• ClinVar RCV Id: RCV000522742
• dbSNP Id: rs201930377
• ExAC: 15:48580714 G / A
• gnomAD v2: 15-48580714-G-A
• gnomAD v4: 15-48288517-G-A
• COSMIC: COSM433975 ; COSM1134014
• MyVariant Identifiers: chr15:g.48580714G>A (hg19) ; chr15:g.48288517G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48288517G>A , CM000677.2:g.48288517G>A	GRCh38
NC_000015.9:g.48580714G>A , CM000677.1:g.48580714G>A	GRCh37
NC_000015.8:g.46368006G>A	NCBI36
NG_021301.1:g.87217G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000686073.1:c.2873+1G>A	ENSP00000508901.1:n.2873+1G>A
ENST00000380993.8:c.2873+1G>A MANE Select	ENSP00000370381.3:n.2873+1G>A
ENST00000646012.1:c.3011+1G>A	ENSP00000495813.1:n.3011+1G>A
ENST00000647232.1:c.2873+1G>A	ENSP00000493875.1:n.2873+1G>A
ENST00000647546.1:c.2873+1G>A	ENSP00000495332.1:n.2873+1G>A
ENST00000380993.7:c.2873+1G>A	ENSP00000370381.3:n.2873+1G>A
ENST00000396577.7:c.2873+1G>A	ENSP00000379822.3:n.2873+1G>A
ENST00000558252.5:n.6996+1G>A
ENST00000558405.5:c.2873+1G>A	ENSP00000453409.1:n.2873+1G>A
ENST00000560692.5:n.7012+1G>A
NM_000338.2:c.2873+1G>A	NP_000329.2:n.2873+1G>A
NM_001184832.1:c.2873+1G>A	NP_001171761.1:n.2873+1G>A
XM_005254605.1:c.2969+1G>A	XP_005254662.1:n.2969+1G>A
XM_005254606.1:c.2873+1G>A	XP_005254663.1:n.2873+1G>A
XM_006720656.1:c.2969+1G>A	XP_006720719.1:n.2969+1G>A
XM_005254606.2:c.2873+1G>A	XP_005254663.1:n.2873+1G>A
XR_001751523.1:n.1001+1261C>T
NM_000338.3:c.2873+1G>A MANE Select	NP_000329.2:n.2873+1G>A
NM_001184832.2:c.2873+1G>A	NP_001171761.1:n.2873+1G>A
NM_001384136.1:c.2873+1G>A	NP_001371065.1:n.2873+1G>A