Canonical Allele Identifier: CA16616922
Gene: CHD4 HGNC NCBI

Linked Data

ClinVar Variation Id: 417890
ClinVar RCV Id: RCV000477959
dbSNP Id: rs1060499583

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6587518A>C , CM000674.2:g.6587518A>C GRCh38
NC_000012.11:g.6696684A>C , CM000674.1:g.6696684A>C GRCh37
NC_000012.10:g.6566945A>C NCBI36
NG_052823.1:g.24922T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000357008.7:c.3706T>G ENSP00000349508.3:p.Tyr1236Asp
ENST00000540960.2:n.453T>G
ENST00000544040.7:c.3745T>G MANE Select ENSP00000440542.2:p.Tyr1249Asp
ENST00000544484.6:c.3736T>G ENSP00000440392.1:p.Tyr1246Asp
ENST00000642594.1:c.3671T>G
ENST00000642810.1:c.3685T>G ENSP00000495160.1:p.Tyr1229Asp
ENST00000642879.1:c.3685T>G ENSP00000494456.1:p.Tyr1229Asp
ENST00000643335.1:c.3724T>G ENSP00000496358.1:p.Tyr1242Asp
ENST00000643538.1:c.280T>G ENSP00000494571.1:p.Tyr94Asp
ENST00000643815.1:c.2462T>G
ENST00000644137.1:c.3724T>G ENSP00000495816.1:p.Tyr1242Asp
ENST00000644289.1:c.3712T>G ENSP00000496707.1:p.Tyr1238Asp
ENST00000644352.1:c.1603T>G ENSP00000494981.1:p.Tyr535Asp
ENST00000644356.1:n.1700T>G
ENST00000644480.2:c.3724T>G ENSP00000493629.2:p.Tyr1242Asp
ENST00000644801.1:c.*421T>G ENSP00000496660.1:n.*421T>G
ENST00000645005.1:c.3745T>G ENSP00000493471.1:p.Tyr1249Asp
ENST00000645022.1:c.3724T>G ENSP00000496163.1:p.Tyr1242Asp
ENST00000645095.1:c.3745T>G ENSP00000496634.1:p.Tyr1249Asp
ENST00000645645.1:c.3706T>G ENSP00000496543.1:p.Tyr1236Asp
ENST00000646070.1:n.533T>G
ENST00000646268.1:c.3724T>G ENSP00000495023.1:p.Tyr1242Asp
ENST00000646366.1:n.3325T>G
ENST00000646608.1:c.2673T>G
ENST00000646806.1:c.3685T>G ENSP00000494574.1:p.Tyr1229Asp
ENST00000647333.1:n.65T>G
ENST00000647483.1:c.1797T>G
ENST00000357008.6:c.3745T>G ENSP00000349508.2:p.Tyr1249Asp
ENST00000536301.1:n.48+4020T>G
ENST00000540960.1:n.156T>G
ENST00000544040.5:c.3724T>G ENSP00000440542.1:p.Tyr1242Asp
ENST00000544484.5:c.3736T>G ENSP00000440392.1:p.Tyr1246Asp
NM_001273.3:c.3745T>G NP_001264.2:p.Tyr1249Asp
NM_001297553.1:c.3724T>G NP_001284482.1:p.Tyr1242Asp
XM_005253668.3:c.3724T>G XP_005253725.1:p.Tyr1242Asp
XM_006718958.1:c.3745T>G XP_006719021.1:p.Tyr1249Asp
XM_006718959.1:c.3745T>G XP_006719022.1:p.Tyr1249Asp
XM_006718960.1:c.3745T>G XP_006719023.1:p.Tyr1249Asp
XM_006718961.2:c.3724T>G XP_006719024.1:p.Tyr1242Asp
XM_006718962.1:c.3706T>G XP_006719025.1:p.Tyr1236Asp
NM_001273.4:c.3745T>G NP_001264.2:p.Tyr1249Asp
NM_001297553.2:c.3724T>G NP_001284482.1:p.Tyr1242Asp
NM_001363606.1:c.3706T>G NP_001350535.1:p.Tyr1236Asp
XM_017018725.1:c.3745T>G XP_016874214.1:p.Tyr1249Asp
XM_017018726.1:c.3745T>G XP_016874215.1:p.Tyr1249Asp
XM_017018727.1:c.3745T>G XP_016874216.1:p.Tyr1249Asp
XM_017018728.1:c.3745T>G XP_016874217.1:p.Tyr1249Asp
XM_017018729.1:c.3724T>G XP_016874218.1:p.Tyr1242Asp
XM_017018730.1:c.3706T>G XP_016874219.1:p.Tyr1236Asp
XM_017018731.1:c.3706T>G XP_016874220.1:p.Tyr1236Asp
XM_017018732.1:c.3685T>G XP_016874221.1:p.Tyr1229Asp
XM_017018733.1:c.3685T>G XP_016874222.1:p.Tyr1229Asp
XM_017018734.1:c.3685T>G XP_016874223.1:p.Tyr1229Asp
XM_024448802.1:c.3745T>G XP_024304570.1:p.Tyr1249Asp
XM_024448803.1:c.3724T>G XP_024304571.1:p.Tyr1242Asp
XM_024448804.1:c.3706T>G XP_024304572.1:p.Tyr1236Asp
XM_024448805.1:c.3685T>G XP_024304573.1:p.Tyr1229Asp
NM_001273.5:c.3745T>G MANE Select NP_001264.2:p.Tyr1249Asp
NM_001363606.2:c.3706T>G NP_001350535.1:p.Tyr1236Asp