Canonical Allele Identifier: CA1048076965

Gene: CHDH

Linked Data

• dbSNP Id: rs1242496405
• gnomAD v3: 3-53844654-A-G
• gnomAD v4: 3-53844654-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53844654A>G , CM000665.2:g.53844654A>G	GRCh38
NC_000003.11:g.53878681A>G , CM000665.1:g.53878681A>G	GRCh37
NC_000003.10:g.53853721A>G	NCBI36
NG_028042.1:g.6740T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315251.11:c.-131+1429T>C MANE Select	ENSP00000319851.5:n.-131+1429T>C
ENST00000315251.10:c.-131+1429T>C	ENSP00000319851.5:n.-131+1429T>C
ENST00000467802.1:c.-131+59T>C	ENSP00000419863.1:n.-131+59T>C
NM_018397.4:c.-131+1429T>C	NP_060867.2:n.-131+1429T>C
XM_006713250.2:c.-131+1429T>C	XP_006713313.1:n.-131+1429T>C
XM_006713251.2:c.-131+1168T>C	XP_006713314.1:n.-131+1168T>C
XM_006713252.2:c.-131+1429T>C	XP_006713315.1:n.-131+1429T>C
XM_011533938.1:c.-131+59T>C	XP_011532240.1:n.-131+59T>C
XM_011533939.1:c.-131+189T>C	XP_011532241.1:n.-131+189T>C
XM_006713250.4:c.-131+1429T>C	XP_006713313.1:n.-131+1429T>C
XM_006713251.4:c.-131+1168T>C	XP_006713314.1:n.-131+1168T>C
XM_006713252.4:c.-131+1429T>C	XP_006713315.1:n.-131+1429T>C
XM_011533938.3:c.-131+59T>C	XP_011532240.1:n.-131+59T>C
XM_011533939.3:c.-131+189T>C	XP_011532241.1:n.-131+189T>C
XM_017006797.2:c.-131+59T>C	XP_016862286.1:n.-131+59T>C
XM_017006799.2:c.-131+1429T>C	XP_016862288.1:n.-131+1429T>C
XR_001740199.2:n.382+1429T>C
XR_002959545.1:n.382+1429T>C
NM_018397.5:c.-131+1429T>C MANE Select	NP_060867.2:n.-131+1429T>C