Canonical Allele Identifier: CA2744978

Gene: AHSG

Linked Data

• ClinVar Variation Id: 778119
• ClinVar RCV Id: RCV000958713
• dbSNP Id: rs74888869
• ExAC: 3:186336436 C / A
• gnomAD v2: 3-186336436-C-A
• gnomAD v3: 3-186618647-C-A
• gnomAD v4: 3-186618647-C-A
• MyVariant Identifiers: chr3:g.186336436C>A (hg19) ; chr3:g.186618647C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.186618647C>A , CM000665.2:g.186618647C>A	GRCh38
NC_000003.11:g.186336436C>A , CM000665.1:g.186336436C>A	GRCh37
NC_000003.10:g.187819130C>A	NCBI36
NG_011436.1:g.10587C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411641.7:c.675+10C>A MANE Select	ENSP00000393887.2:n.675+10C>A
ENST00000273784.5:c.678+10C>A	ENSP00000273784.5:n.678+10C>A
ENST00000411641.6:c.675+10C>A	ENSP00000393887.2:n.675+10C>A
NM_001622.2:c.675+10C>A	NP_001613.2:n.675+10C>A
NM_001354571.1:c.678+10C>A	NP_001341500.1:n.678+10C>A
NM_001354572.1:c.672+10C>A	NP_001341501.1:n.672+10C>A
NM_001354573.1:c.675+10C>A	NP_001341502.1:n.675+10C>A
NM_001622.3:c.675+10C>A	NP_001613.2:n.675+10C>A
NM_001622.4:c.675+10C>A MANE Select	NP_001613.2:n.675+10C>A
NM_001354571.2:c.678+10C>A	NP_001341500.1:n.678+10C>A
NM_001354572.2:c.672+10C>A	NP_001341501.1:n.672+10C>A
NM_001354573.2:c.675+10C>A	NP_001341502.1:n.675+10C>A