Canonical Allele Identifier: CA74855084

Gene: CHDH

Linked Data

• dbSNP Id: rs865990698
• gnomAD v2: 3-53878749-G-C
• gnomAD v3: 3-53844722-G-C
• gnomAD v4: 3-53844722-G-C
• MyVariant Identifiers: chr3:g.53878749G>C (hg19) ; chr3:g.53844722G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53844722G>C , CM000665.2:g.53844722G>C	GRCh38
NC_000003.11:g.53878749G>C , CM000665.1:g.53878749G>C	GRCh37
NC_000003.10:g.53853789G>C	NCBI36
NG_028042.1:g.6672C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315251.11:c.-131+1361C>G MANE Select	ENSP00000319851.5:n.-131+1361C>G
ENST00000315251.10:c.-131+1361C>G	ENSP00000319851.5:n.-131+1361C>G
ENST00000467802.1:c.-140C>G	ENSP00000419863.1:n.-140C>G
NM_018397.4:c.-131+1361C>G	NP_060867.2:n.-131+1361C>G
XM_006713250.2:c.-131+1361C>G	XP_006713313.1:n.-131+1361C>G
XM_006713251.2:c.-131+1100C>G	XP_006713314.1:n.-131+1100C>G
XM_006713252.2:c.-131+1361C>G	XP_006713315.1:n.-131+1361C>G
XM_011533938.1:c.-140C>G	XP_011532240.1:n.-140C>G
XM_011533939.1:c.-131+121C>G	XP_011532241.1:n.-131+121C>G
XM_006713250.4:c.-131+1361C>G	XP_006713313.1:n.-131+1361C>G
XM_006713251.4:c.-131+1100C>G	XP_006713314.1:n.-131+1100C>G
XM_006713252.4:c.-131+1361C>G	XP_006713315.1:n.-131+1361C>G
XM_011533938.3:c.-140C>G	XP_011532240.1:n.-140C>G
XM_011533939.3:c.-131+121C>G	XP_011532241.1:n.-131+121C>G
XM_017006797.2:c.-140C>G	XP_016862286.1:n.-140C>G
XM_017006799.2:c.-131+1361C>G	XP_016862288.1:n.-131+1361C>G
XR_001740199.2:n.382+1361C>G
XR_002959545.1:n.382+1361C>G
NM_018397.5:c.-131+1361C>G MANE Select	NP_060867.2:n.-131+1361C>G