Canonical Allele Identifier: CA543201834

Gene: CHDH

Linked Data

• dbSNP Id: rs1222258899
• gnomAD v2: 3-53878941-T-A
• gnomAD v3: 3-53844914-T-A
• gnomAD v4: 3-53844914-T-A
• MyVariant Identifiers: chr3:g.53878941T>A (hg19) ; chr3:g.53844914T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53844914T>A , CM000665.2:g.53844914T>A	GRCh38
NC_000003.11:g.53878941T>A , CM000665.1:g.53878941T>A	GRCh37
NC_000003.10:g.53853981T>A	NCBI36
NG_028042.1:g.6480A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315251.11:c.-131+1169A>T MANE Select	ENSP00000319851.5:n.-131+1169A>T
ENST00000315251.10:c.-131+1169A>T	ENSP00000319851.5:n.-131+1169A>T
NM_018397.4:c.-131+1169A>T	NP_060867.2:n.-131+1169A>T
XM_006713250.2:c.-131+1169A>T	XP_006713313.1:n.-131+1169A>T
XM_006713251.2:c.-131+908A>T	XP_006713314.1:n.-131+908A>T
XM_006713252.2:c.-131+1169A>T	XP_006713315.1:n.-131+1169A>T
XM_011533939.1:c.-202A>T	XP_011532241.1:n.-202A>T
XM_006713250.4:c.-131+1169A>T	XP_006713313.1:n.-131+1169A>T
XM_006713251.4:c.-131+908A>T	XP_006713314.1:n.-131+908A>T
XM_006713252.4:c.-131+1169A>T	XP_006713315.1:n.-131+1169A>T
XM_011533939.3:c.-202A>T	XP_011532241.1:n.-202A>T
XM_017006799.2:c.-131+1169A>T	XP_016862288.1:n.-131+1169A>T
XR_001740199.2:n.382+1169A>T
XR_002959545.1:n.382+1169A>T
NM_018397.5:c.-131+1169A>T MANE Select	NP_060867.2:n.-131+1169A>T