Canonical Allele Identifier: CA74854845

Gene: CHDH

Linked Data

• dbSNP Id: rs552518676
• gnomAD v2: 3-53878153-G-A
• gnomAD v3: 3-53844126-G-A
• gnomAD v4: 3-53844126-G-A
• MyVariant Identifiers: chr3:g.53878153G>A (hg19) ; chr3:g.53844126G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53844126G>A , CM000665.2:g.53844126G>A	GRCh38
NC_000003.11:g.53878153G>A , CM000665.1:g.53878153G>A	GRCh37
NC_000003.10:g.53853193G>A	NCBI36
NG_028042.1:g.7268C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315251.11:c.-131+1957C>T MANE Select	ENSP00000319851.5:n.-131+1957C>T
ENST00000315251.10:c.-131+1957C>T	ENSP00000319851.5:n.-131+1957C>T
ENST00000467802.1:c.-131+587C>T	ENSP00000419863.1:n.-131+587C>T
ENST00000481668.5:c.-131+456C>T	ENSP00000418273.1:n.-131+456C>T
NM_018397.4:c.-131+1957C>T	NP_060867.2:n.-131+1957C>T
XM_006713250.2:c.-131+1957C>T	XP_006713313.1:n.-131+1957C>T
XM_006713251.2:c.-131+1696C>T	XP_006713314.1:n.-131+1696C>T
XM_006713252.2:c.-131+1957C>T	XP_006713315.1:n.-131+1957C>T
XM_011533938.1:c.-131+587C>T	XP_011532240.1:n.-131+587C>T
XM_011533939.1:c.-131+717C>T	XP_011532241.1:n.-131+717C>T
XM_006713250.4:c.-131+1957C>T	XP_006713313.1:n.-131+1957C>T
XM_006713251.4:c.-131+1696C>T	XP_006713314.1:n.-131+1696C>T
XM_006713252.4:c.-131+1957C>T	XP_006713315.1:n.-131+1957C>T
XM_011533938.3:c.-131+587C>T	XP_011532240.1:n.-131+587C>T
XM_011533939.3:c.-131+717C>T	XP_011532241.1:n.-131+717C>T
XM_017006797.2:c.-131+587C>T	XP_016862286.1:n.-131+587C>T
XM_017006799.2:c.-131+1957C>T	XP_016862288.1:n.-131+1957C>T
XR_001740199.2:n.382+1957C>T
XR_002959545.1:n.382+1957C>T
NM_018397.5:c.-131+1957C>T MANE Select	NP_060867.2:n.-131+1957C>T