Canonical Allele Identifier: CA2666148173

Gene: CHDH

Linked Data

• gnomAD v4: 3-53844597-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53844597G>C , CM000665.2:g.53844597G>C	GRCh38
NC_000003.11:g.53878624G>C , CM000665.1:g.53878624G>C	GRCh37
NC_000003.10:g.53853664G>C	NCBI36
NG_028042.1:g.6797C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000315251.11:c.-131+1486C>G MANE Select	ENSP00000319851.5:n.-131+1486C>G
ENST00000315251.10:c.-131+1486C>G	ENSP00000319851.5:n.-131+1486C>G
ENST00000467802.1:c.-131+116C>G	ENSP00000419863.1:n.-131+116C>G
ENST00000481668.5:c.-146C>G	ENSP00000418273.1:n.-146C>G
NM_018397.4:c.-131+1486C>G	NP_060867.2:n.-131+1486C>G
XM_006713250.2:c.-131+1486C>G	XP_006713313.1:n.-131+1486C>G
XM_006713251.2:c.-131+1225C>G	XP_006713314.1:n.-131+1225C>G
XM_006713252.2:c.-131+1486C>G	XP_006713315.1:n.-131+1486C>G
XM_011533938.1:c.-131+116C>G	XP_011532240.1:n.-131+116C>G
XM_011533939.1:c.-131+246C>G	XP_011532241.1:n.-131+246C>G
XM_006713250.4:c.-131+1486C>G	XP_006713313.1:n.-131+1486C>G
XM_006713251.4:c.-131+1225C>G	XP_006713314.1:n.-131+1225C>G
XM_006713252.4:c.-131+1486C>G	XP_006713315.1:n.-131+1486C>G
XM_011533938.3:c.-131+116C>G	XP_011532240.1:n.-131+116C>G
XM_011533939.3:c.-131+246C>G	XP_011532241.1:n.-131+246C>G
XM_017006797.2:c.-131+116C>G	XP_016862286.1:n.-131+116C>G
XM_017006799.2:c.-131+1486C>G	XP_016862288.1:n.-131+1486C>G
XR_001740199.2:n.382+1486C>G
XR_002959545.1:n.382+1486C>G
NM_018397.5:c.-131+1486C>G MANE Select	NP_060867.2:n.-131+1486C>G