Canonical Allele Identifier: CA74854842

Gene: CHDH

Linked Data

• dbSNP Id: rs538589851
• gnomAD v2: 3-53878149-C-T
• gnomAD v3: 3-53844122-C-T
• gnomAD v4: 3-53844122-C-T
• MyVariant Identifiers: chr3:g.53878149C>T (hg19) ; chr3:g.53844122C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53844122C>T , CM000665.2:g.53844122C>T	GRCh38
NC_000003.11:g.53878149C>T , CM000665.1:g.53878149C>T	GRCh37
NC_000003.10:g.53853189C>T	NCBI36
NG_028042.1:g.7272G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315251.11:c.-131+1961G>A MANE Select	ENSP00000319851.5:n.-131+1961G>A
ENST00000315251.10:c.-131+1961G>A	ENSP00000319851.5:n.-131+1961G>A
ENST00000467802.1:c.-131+591G>A	ENSP00000419863.1:n.-131+591G>A
ENST00000481668.5:c.-131+460G>A	ENSP00000418273.1:n.-131+460G>A
NM_018397.4:c.-131+1961G>A	NP_060867.2:n.-131+1961G>A
XM_006713250.2:c.-131+1961G>A	XP_006713313.1:n.-131+1961G>A
XM_006713251.2:c.-131+1700G>A	XP_006713314.1:n.-131+1700G>A
XM_006713252.2:c.-131+1961G>A	XP_006713315.1:n.-131+1961G>A
XM_011533938.1:c.-131+591G>A	XP_011532240.1:n.-131+591G>A
XM_011533939.1:c.-131+721G>A	XP_011532241.1:n.-131+721G>A
XM_006713250.4:c.-131+1961G>A	XP_006713313.1:n.-131+1961G>A
XM_006713251.4:c.-131+1700G>A	XP_006713314.1:n.-131+1700G>A
XM_006713252.4:c.-131+1961G>A	XP_006713315.1:n.-131+1961G>A
XM_011533938.3:c.-131+591G>A	XP_011532240.1:n.-131+591G>A
XM_011533939.3:c.-131+721G>A	XP_011532241.1:n.-131+721G>A
XM_017006797.2:c.-131+591G>A	XP_016862286.1:n.-131+591G>A
XM_017006799.2:c.-131+1961G>A	XP_016862288.1:n.-131+1961G>A
XR_001740199.2:n.382+1961G>A
XR_002959545.1:n.382+1961G>A
NM_018397.5:c.-131+1961G>A MANE Select	NP_060867.2:n.-131+1961G>A