Canonical Allele Identifier: CA908279164

Gene: CHDH

Linked Data

• dbSNP Id: rs1419223745
• gnomAD v3: 3-53844944-GA-G
• gnomAD v4: 3-53844944-GA-G
• MyVariant Identifiers: chr3:g.53878972del (hg19) ; chr3:g.53844945del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53844948del , CM000665.2:g.53844948del	GRCh38
NC_000003.11:g.53878975del , CM000665.1:g.53878975del	GRCh37
NC_000003.10:g.53854015del	NCBI36
NG_028042.1:g.6449del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315251.11:c.-131+1138del MANE Select	ENSP00000319851.5:n.-131+1138del
ENST00000315251.10:c.-131+1138del	ENSP00000319851.5:n.-131+1138del
NM_018397.4:c.-131+1138del	NP_060867.2:n.-131+1138del
XM_006713250.2:c.-131+1138del	XP_006713313.1:n.-131+1138del
XM_006713251.2:c.-131+877del	XP_006713314.1:n.-131+877del
XM_006713252.2:c.-131+1138del	XP_006713315.1:n.-131+1138del
XM_011533939.1:c.-233del	XP_011532241.1:n.-233del
XM_006713250.4:c.-131+1138del	XP_006713313.1:n.-131+1138del
XM_006713251.4:c.-131+877del	XP_006713314.1:n.-131+877del
XM_006713252.4:c.-131+1138del	XP_006713315.1:n.-131+1138del
XM_011533939.3:c.-233del	XP_011532241.1:n.-233del
XM_017006799.2:c.-131+1138del	XP_016862288.1:n.-131+1138del
XR_001740199.2:n.382+1138del
XR_002959545.1:n.382+1138del
NM_018397.5:c.-131+1138del MANE Select	NP_060867.2:n.-131+1138del