Canonical Allele Identifier: CA6411972

Gene: CHD4

Linked Data

• ClinVar Variation Id: 1626885
• ClinVar RCV Id: RCV002120649
• dbSNP Id: rs138250427
• ExAC: 12:6702699 T / G
• gnomAD v2: 12-6702699-T-G
• gnomAD v3: 12-6593533-T-G
• gnomAD v4: 12-6593533-T-G
• MyVariant Identifiers: chr12:g.6702699T>G (hg19) ; chr12:g.6593533T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6593533T>G , CM000674.2:g.6593533T>G	GRCh38
NC_000012.11:g.6702699T>G , CM000674.1:g.6702699T>G	GRCh37
NC_000012.10:g.6572960T>G	NCBI36
NG_052823.1:g.18907A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357008.7:c.2358A>C	ENSP00000349508.3:p.Pro786=
ENST00000544040.7:c.2397A>C MANE Select	ENSP00000440542.2:p.Pro799=
ENST00000544484.6:c.2388A>C	ENSP00000440392.1:p.Pro796=
ENST00000642594.1:c.2323A>C
ENST00000642810.1:c.2337A>C	ENSP00000495160.1:p.Pro779=
ENST00000642879.1:c.2337A>C	ENSP00000494456.1:p.Pro779=
ENST00000643335.1:c.2376A>C	ENSP00000496358.1:p.Pro792=
ENST00000643815.1:c.1114A>C
ENST00000644137.1:c.2376A>C	ENSP00000495816.1:p.Pro792=
ENST00000644289.1:c.2364A>C	ENSP00000496707.1:p.Pro788=
ENST00000644352.1:c.255A>C	ENSP00000494981.1:p.Pro85=
ENST00000644356.1:n.352A>C
ENST00000644480.2:c.2376A>C	ENSP00000493629.2:p.Pro792=
ENST00000644801.1:c.2376A>C	ENSP00000496660.1:p.Pro792=
ENST00000645005.1:c.2397A>C	ENSP00000493471.1:p.Pro799=
ENST00000645022.1:c.2376A>C	ENSP00000496163.1:p.Pro792=
ENST00000645095.1:c.2397A>C	ENSP00000496634.1:p.Pro799=
ENST00000645645.1:c.2358A>C	ENSP00000496543.1:p.Pro786=
ENST00000646268.1:c.2376A>C	ENSP00000495023.1:p.Pro792=
ENST00000646366.1:n.1977A>C
ENST00000646608.1:c.1325A>C
ENST00000646806.1:c.2337A>C	ENSP00000494574.1:p.Pro779=
ENST00000647483.1:c.398A>C
ENST00000357008.6:c.2397A>C	ENSP00000349508.2:p.Pro799=
ENST00000544040.5:c.2376A>C	ENSP00000440542.1:p.Pro792=
ENST00000544484.5:c.2388A>C	ENSP00000440392.1:p.Pro796=
NM_001273.3:c.2397A>C	NP_001264.2:p.Pro799=
NM_001297553.1:c.2376A>C	NP_001284482.1:p.Pro792=
XM_005253668.3:c.2376A>C	XP_005253725.1:p.Pro792=
XM_006718958.1:c.2397A>C	XP_006719021.1:p.Pro799=
XM_006718959.1:c.2397A>C	XP_006719022.1:p.Pro799=
XM_006718960.1:c.2397A>C	XP_006719023.1:p.Pro799=
XM_006718961.2:c.2376A>C	XP_006719024.1:p.Pro792=
XM_006718962.1:c.2358A>C	XP_006719025.1:p.Pro786=
NM_001273.4:c.2397A>C	NP_001264.2:p.Pro799=
NM_001297553.2:c.2376A>C	NP_001284482.1:p.Pro792=
NM_001363606.1:c.2358A>C	NP_001350535.1:p.Pro786=
XM_017018725.1:c.2397A>C	XP_016874214.1:p.Pro799=
XM_017018726.1:c.2397A>C	XP_016874215.1:p.Pro799=
XM_017018727.1:c.2397A>C	XP_016874216.1:p.Pro799=
XM_017018728.1:c.2397A>C	XP_016874217.1:p.Pro799=
XM_017018729.1:c.2376A>C	XP_016874218.1:p.Pro792=
XM_017018730.1:c.2358A>C	XP_016874219.1:p.Pro786=
XM_017018731.1:c.2358A>C	XP_016874220.1:p.Pro786=
XM_017018732.1:c.2337A>C	XP_016874221.1:p.Pro779=
XM_017018733.1:c.2337A>C	XP_016874222.1:p.Pro779=
XM_017018734.1:c.2337A>C	XP_016874223.1:p.Pro779=
XM_024448802.1:c.2397A>C	XP_024304570.1:p.Pro799=
XM_024448803.1:c.2376A>C	XP_024304571.1:p.Pro792=
XM_024448804.1:c.2358A>C	XP_024304572.1:p.Pro786=
XM_024448805.1:c.2337A>C	XP_024304573.1:p.Pro779=
NM_001273.5:c.2397A>C MANE Select	NP_001264.2:p.Pro799=
NM_001363606.2:c.2358A>C	NP_001350535.1:p.Pro786=