Canonical Allele Identifier: CA11405511
Gene: CHDH HGNC NCBI

Linked Data

dbSNP Id: rs2289205
gnomAD v2: 3-53878616-C-T
gnomAD v3: 3-53844589-C-T
gnomAD v4: 3-53844589-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.53844589C>T , CM000665.2:g.53844589C>T GRCh38
NC_000003.11:g.53878616C>T , CM000665.1:g.53878616C>T GRCh37
NC_000003.10:g.53853656C>T NCBI36
NG_028042.1:g.6805G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000315251.11:c.-131+1494G>A MANE Select ENSP00000319851.5:n.-131+1494G>A
ENST00000315251.10:c.-131+1494G>A ENSP00000319851.5:n.-131+1494G>A
ENST00000467802.1:c.-131+124G>A ENSP00000419863.1:n.-131+124G>A
ENST00000481668.5:c.-138G>A ENSP00000418273.1:n.-138G>A
NM_018397.4:c.-131+1494G>A NP_060867.2:n.-131+1494G>A
XM_006713250.2:c.-131+1494G>A XP_006713313.1:n.-131+1494G>A
XM_006713251.2:c.-131+1233G>A XP_006713314.1:n.-131+1233G>A
XM_006713252.2:c.-131+1494G>A XP_006713315.1:n.-131+1494G>A
XM_011533938.1:c.-131+124G>A XP_011532240.1:n.-131+124G>A
XM_011533939.1:c.-131+254G>A XP_011532241.1:n.-131+254G>A
XM_006713250.4:c.-131+1494G>A XP_006713313.1:n.-131+1494G>A
XM_006713251.4:c.-131+1233G>A XP_006713314.1:n.-131+1233G>A
XM_006713252.4:c.-131+1494G>A XP_006713315.1:n.-131+1494G>A
XM_011533938.3:c.-131+124G>A XP_011532240.1:n.-131+124G>A
XM_011533939.3:c.-131+254G>A XP_011532241.1:n.-131+254G>A
XM_017006797.2:c.-131+124G>A XP_016862286.1:n.-131+124G>A
XM_017006799.2:c.-131+1494G>A XP_016862288.1:n.-131+1494G>A
XR_001740199.2:n.382+1494G>A
XR_002959545.1:n.382+1494G>A
NM_018397.5:c.-131+1494G>A MANE Select NP_060867.2:n.-131+1494G>A