Canonical Allele Identifier: CA1048076919

Gene: CHDH

Linked Data

• dbSNP Id: rs1698788008
• gnomAD v3: 3-53844518-C-CCTCCT
• gnomAD v4: 3-53844518-C-CCTCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53844528_53844532dup , CM000665.2:g.53844528_53844532dup	GRCh38
NC_000003.11:g.53878555_53878559dup , CM000665.1:g.53878555_53878559dup	GRCh37
NC_000003.10:g.53853595_53853599dup	NCBI36
NG_028042.1:g.6871_6875dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315251.11:c.-131+1560_-131+1564dup MANE Select	ENSP00000319851.5:n.-131+1560_-131+1564dup
ENST00000315251.10:c.-131+1560_-131+1564dup	ENSP00000319851.5:n.-131+1560_-131+1564dup
ENST00000467802.1:c.-131+190_-131+194dup	ENSP00000419863.1:n.-131+190_-131+194dup
ENST00000481668.5:c.-131+59_-131+63dup	ENSP00000418273.1:n.-131+59_-131+63dup
NM_018397.4:c.-131+1560_-131+1564dup	NP_060867.2:n.-131+1560_-131+1564dup
XM_006713250.2:c.-131+1560_-131+1564dup	XP_006713313.1:n.-131+1560_-131+1564dup
XM_006713251.2:c.-131+1299_-131+1303dup	XP_006713314.1:n.-131+1299_-131+1303dup
XM_006713252.2:c.-131+1560_-131+1564dup	XP_006713315.1:n.-131+1560_-131+1564dup
XM_011533938.1:c.-131+190_-131+194dup	XP_011532240.1:n.-131+190_-131+194dup
XM_011533939.1:c.-131+320_-131+324dup	XP_011532241.1:n.-131+320_-131+324dup
XM_006713250.4:c.-131+1560_-131+1564dup	XP_006713313.1:n.-131+1560_-131+1564dup
XM_006713251.4:c.-131+1299_-131+1303dup	XP_006713314.1:n.-131+1299_-131+1303dup
XM_006713252.4:c.-131+1560_-131+1564dup	XP_006713315.1:n.-131+1560_-131+1564dup
XM_011533938.3:c.-131+190_-131+194dup	XP_011532240.1:n.-131+190_-131+194dup
XM_011533939.3:c.-131+320_-131+324dup	XP_011532241.1:n.-131+320_-131+324dup
XM_017006797.2:c.-131+190_-131+194dup	XP_016862286.1:n.-131+190_-131+194dup
XM_017006799.2:c.-131+1560_-131+1564dup	XP_016862288.1:n.-131+1560_-131+1564dup
XR_001740199.2:n.382+1560_382+1564dup
XR_002959545.1:n.382+1560_382+1564dup
NM_018397.5:c.-131+1560_-131+1564dup MANE Select	NP_060867.2:n.-131+1560_-131+1564dup