Canonical Allele Identifier: CA2744752

Gene: AHSG

Linked Data

• ClinVar Variation Id: 1029361
• ClinVar RCV Id: RCV001330619 ; RCV001836988
• dbSNP Id: rs370627604
• ExAC: 3:186330934 A / T
• gnomAD v2: 3-186330934-A-T
• gnomAD v3: 3-186613145-A-T
• gnomAD v4: 3-186613145-A-T
• MyVariant Identifiers: chr3:g.186330934A>T (hg19) ; chr3:g.186613145A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.186613145A>T , CM000665.2:g.186613145A>T	GRCh38
NC_000003.11:g.186330934A>T , CM000665.1:g.186330934A>T	GRCh37
NC_000003.10:g.187813628A>T	NCBI36
NG_011436.1:g.5085A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411641.7:c.4A>T MANE Select	ENSP00000393887.2:p.Lys2Ter
ENST00000273784.5:c.4A>T	ENSP00000273784.5:p.Lys2Ter
ENST00000411641.6:c.4A>T	ENSP00000393887.2:p.Lys2Ter
ENST00000478441.1:n.61A>T
NM_001622.2:c.4A>T	NP_001613.2:p.Lys2Ter
NM_001354571.1:c.4A>T	NP_001341500.1:p.Lys2Ter
NM_001354572.1:c.4A>T	NP_001341501.1:p.Lys2Ter
NM_001354573.1:c.4A>T	NP_001341502.1:p.Lys2Ter
NM_001622.3:c.4A>T	NP_001613.2:p.Lys2Ter
NM_001622.4:c.4A>T MANE Select	NP_001613.2:p.Lys2Ter
NM_001354571.2:c.4A>T	NP_001341500.1:p.Lys2Ter
NM_001354572.2:c.4A>T	NP_001341501.1:p.Lys2Ter
NM_001354573.2:c.4A>T	NP_001341502.1:p.Lys2Ter