Canonical Allele Identifier: CA383592949

Gene: CHD4

Linked Data

• dbSNP Id: rs1221985211
• gnomAD v2: 12-6702620-T-C
• gnomAD v4: 12-6593454-T-C
• MyVariant Identifiers: chr12:g.6702620T>C (hg19) ; chr12:g.6593454T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6593454T>C , CM000674.2:g.6593454T>C	GRCh38
NC_000012.11:g.6702620T>C , CM000674.1:g.6702620T>C	GRCh37
NC_000012.10:g.6572881T>C	NCBI36
NG_052823.1:g.18986A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357008.7:c.2437A>G	ENSP00000349508.3:p.Asn813Asp
ENST00000544040.7:c.2476A>G MANE Select	ENSP00000440542.2:p.Asn826Asp
ENST00000544484.6:c.2467A>G	ENSP00000440392.1:p.Asn823Asp
ENST00000642594.1:c.2402A>G
ENST00000642810.1:c.2416A>G	ENSP00000495160.1:p.Asn806Asp
ENST00000642879.1:c.2416A>G	ENSP00000494456.1:p.Asn806Asp
ENST00000643335.1:c.2455A>G	ENSP00000496358.1:p.Asn819Asp
ENST00000643815.1:c.1193A>G
ENST00000644137.1:c.2455A>G	ENSP00000495816.1:p.Asn819Asp
ENST00000644289.1:c.2443A>G	ENSP00000496707.1:p.Asn815Asp
ENST00000644352.1:c.334A>G	ENSP00000494981.1:p.Asn112Asp
ENST00000644356.1:n.431A>G
ENST00000644480.2:c.2455A>G	ENSP00000493629.2:p.Asn819Asp
ENST00000644801.1:c.2455A>G	ENSP00000496660.1:p.Asn819Asp
ENST00000645005.1:c.2476A>G	ENSP00000493471.1:p.Asn826Asp
ENST00000645022.1:c.2455A>G	ENSP00000496163.1:p.Asn819Asp
ENST00000645095.1:c.2476A>G	ENSP00000496634.1:p.Asn826Asp
ENST00000645645.1:c.2437A>G	ENSP00000496543.1:p.Asn813Asp
ENST00000646268.1:c.2455A>G	ENSP00000495023.1:p.Asn819Asp
ENST00000646366.1:n.2056A>G
ENST00000646608.1:c.1404A>G
ENST00000646806.1:c.2416A>G	ENSP00000494574.1:p.Asn806Asp
ENST00000647483.1:c.477A>G
ENST00000357008.6:c.2476A>G	ENSP00000349508.2:p.Asn826Asp
ENST00000544040.5:c.2455A>G	ENSP00000440542.1:p.Asn819Asp
ENST00000544484.5:c.2467A>G	ENSP00000440392.1:p.Asn823Asp
NM_001273.3:c.2476A>G	NP_001264.2:p.Asn826Asp
NM_001297553.1:c.2455A>G	NP_001284482.1:p.Asn819Asp
XM_005253668.3:c.2455A>G	XP_005253725.1:p.Asn819Asp
XM_006718958.1:c.2476A>G	XP_006719021.1:p.Asn826Asp
XM_006718959.1:c.2476A>G	XP_006719022.1:p.Asn826Asp
XM_006718960.1:c.2476A>G	XP_006719023.1:p.Asn826Asp
XM_006718961.2:c.2455A>G	XP_006719024.1:p.Asn819Asp
XM_006718962.1:c.2437A>G	XP_006719025.1:p.Asn813Asp
NM_001273.4:c.2476A>G	NP_001264.2:p.Asn826Asp
NM_001297553.2:c.2455A>G	NP_001284482.1:p.Asn819Asp
NM_001363606.1:c.2437A>G	NP_001350535.1:p.Asn813Asp
XM_017018725.1:c.2476A>G	XP_016874214.1:p.Asn826Asp
XM_017018726.1:c.2476A>G	XP_016874215.1:p.Asn826Asp
XM_017018727.1:c.2476A>G	XP_016874216.1:p.Asn826Asp
XM_017018728.1:c.2476A>G	XP_016874217.1:p.Asn826Asp
XM_017018729.1:c.2455A>G	XP_016874218.1:p.Asn819Asp
XM_017018730.1:c.2437A>G	XP_016874219.1:p.Asn813Asp
XM_017018731.1:c.2437A>G	XP_016874220.1:p.Asn813Asp
XM_017018732.1:c.2416A>G	XP_016874221.1:p.Asn806Asp
XM_017018733.1:c.2416A>G	XP_016874222.1:p.Asn806Asp
XM_017018734.1:c.2416A>G	XP_016874223.1:p.Asn806Asp
XM_024448802.1:c.2476A>G	XP_024304570.1:p.Asn826Asp
XM_024448803.1:c.2455A>G	XP_024304571.1:p.Asn819Asp
XM_024448804.1:c.2437A>G	XP_024304572.1:p.Asn813Asp
XM_024448805.1:c.2416A>G	XP_024304573.1:p.Asn806Asp
NM_001273.5:c.2476A>G MANE Select	NP_001264.2:p.Asn826Asp
NM_001363606.2:c.2437A>G	NP_001350535.1:p.Asn813Asp