Canonical Allele Identifier: CA2745046

Gene: AHSG

Linked Data

• ClinVar Variation Id: 2411213
• ClinVar RCV Id: RCV002779483
• dbSNP Id: rs146649814
• ExAC: 3:186338429 G / A
• gnomAD v2: 3-186338429-G-A
• gnomAD v3: 3-186620640-G-A
• gnomAD v4: 3-186620640-G-A
• MyVariant Identifiers: chr3:g.186338429G>A (hg19) ; chr3:g.186620640G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.186620640G>A , CM000665.2:g.186620640G>A	GRCh38
NC_000003.11:g.186338429G>A , CM000665.1:g.186338429G>A	GRCh37
NC_000003.10:g.187821123G>A	NCBI36
NG_011436.1:g.12580G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000411641.7:c.814G>A MANE Select	ENSP00000393887.2:p.Val272Met
ENST00000273784.5:c.817G>A	ENSP00000273784.5:p.Val273Met
ENST00000411641.6:c.814G>A	ENSP00000393887.2:p.Val272Met
NM_001622.2:c.814G>A	NP_001613.2:p.Val272Met
NM_001354571.1:c.817G>A	NP_001341500.1:p.Val273Met
NM_001354572.1:c.811G>A	NP_001341501.1:p.Val271Met
NM_001354573.1:c.730G>A	NP_001341502.1:p.Val244Met
NM_001622.3:c.814G>A	NP_001613.2:p.Val272Met
NM_001622.4:c.814G>A MANE Select	NP_001613.2:p.Val272Met
NM_001354571.2:c.817G>A	NP_001341500.1:p.Val273Met
NM_001354572.2:c.811G>A	NP_001341501.1:p.Val271Met
NM_001354573.2:c.730G>A	NP_001341502.1:p.Val244Met