Canonical Allele Identifier: CA543201795

Gene: CHDH

Linked Data

• dbSNP Id: rs1310508194
• gnomAD v2: 3-53878524-C-G
• gnomAD v3: 3-53844497-C-G
• gnomAD v4: 3-53844497-C-G
• MyVariant Identifiers: chr3:g.53878524C>G (hg19) ; chr3:g.53844497C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53844497C>G , CM000665.2:g.53844497C>G	GRCh38
NC_000003.11:g.53878524C>G , CM000665.1:g.53878524C>G	GRCh37
NC_000003.10:g.53853564C>G	NCBI36
NG_028042.1:g.6897G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000315251.11:c.-131+1586G>C MANE Select	ENSP00000319851.5:n.-131+1586G>C
ENST00000315251.10:c.-131+1586G>C	ENSP00000319851.5:n.-131+1586G>C
ENST00000467802.1:c.-131+216G>C	ENSP00000419863.1:n.-131+216G>C
ENST00000481668.5:c.-131+85G>C	ENSP00000418273.1:n.-131+85G>C
NM_018397.4:c.-131+1586G>C	NP_060867.2:n.-131+1586G>C
XM_006713250.2:c.-131+1586G>C	XP_006713313.1:n.-131+1586G>C
XM_006713251.2:c.-131+1325G>C	XP_006713314.1:n.-131+1325G>C
XM_006713252.2:c.-131+1586G>C	XP_006713315.1:n.-131+1586G>C
XM_011533938.1:c.-131+216G>C	XP_011532240.1:n.-131+216G>C
XM_011533939.1:c.-131+346G>C	XP_011532241.1:n.-131+346G>C
XM_006713250.4:c.-131+1586G>C	XP_006713313.1:n.-131+1586G>C
XM_006713251.4:c.-131+1325G>C	XP_006713314.1:n.-131+1325G>C
XM_006713252.4:c.-131+1586G>C	XP_006713315.1:n.-131+1586G>C
XM_011533938.3:c.-131+216G>C	XP_011532240.1:n.-131+216G>C
XM_011533939.3:c.-131+346G>C	XP_011532241.1:n.-131+346G>C
XM_017006797.2:c.-131+216G>C	XP_016862286.1:n.-131+216G>C
XM_017006799.2:c.-131+1586G>C	XP_016862288.1:n.-131+1586G>C
XR_001740199.2:n.382+1586G>C
XR_002959545.1:n.382+1586G>C
NM_018397.5:c.-131+1586G>C MANE Select	NP_060867.2:n.-131+1586G>C