Canonical Allele Identifier: CA690995984

Gene: CHD4

Linked Data

• dbSNP Id: rs997817418
• gnomAD v3: 12-6574268-G-C
• gnomAD v4: 12-6574268-G-C
• MyVariant Identifiers: chr12:g.6683434G>C (hg19) ; chr12:g.6574268G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6574268G>C , CM000674.2:g.6574268G>C	GRCh38
NC_000012.11:g.6683434G>C , CM000674.1:g.6683434G>C	GRCh37
NC_000012.10:g.6553695G>C	NCBI36
NG_052823.1:g.38172C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357008.7:c.5329-999C>G	ENSP00000349508.3:n.5329-999C>G
ENST00000544040.7:c.5362-999C>G MANE Select	ENSP00000440542.2:n.5362-999C>G
ENST00000544484.6:c.5437-999C>G	ENSP00000440392.1:n.5437-999C>G
ENST00000642594.1:c.5288-999C>G
ENST00000642637.1:c.1593-999C>G
ENST00000642810.1:c.*1026-999C>G	ENSP00000495160.1:n.*1026-999C>G
ENST00000642860.1:n.813-999C>G
ENST00000642879.1:c.5386-999C>G	ENSP00000494456.1:n.5386-999C>G
ENST00000643335.1:c.5335-999C>G	ENSP00000496358.1:n.5335-999C>G
ENST00000643367.1:n.492-999C>G
ENST00000643538.1:c.1883-999C>G	ENSP00000494571.1:n.1883-999C>G
ENST00000643815.1:c.4076-999C>G
ENST00000644077.1:c.1295-999C>G
ENST00000644137.1:c.*501-999C>G	ENSP00000495816.1:n.*501-999C>G
ENST00000644352.1:c.3271-999C>G	ENSP00000494981.1:n.3271-999C>G
ENST00000644480.2:c.*443-999C>G	ENSP00000493629.2:n.*443-999C>G
ENST00000644652.1:c.754-999C>G
ENST00000645005.1:c.5368-999C>G	ENSP00000493471.1:n.5368-999C>G
ENST00000645022.1:c.5341-999C>G	ENSP00000496163.1:n.5341-999C>G
ENST00000645095.1:c.5446-999C>G	ENSP00000496634.1:n.5446-999C>G
ENST00000645199.1:n.783-999C>G
ENST00000645645.1:c.5323-999C>G	ENSP00000496543.1:n.5323-999C>G
ENST00000645991.1:c.440-999C>G	ENSP00000496457.1:n.440-999C>G
ENST00000646268.1:c.*1026-999C>G	ENSP00000495023.1:n.*1026-999C>G
ENST00000646322.1:c.10-7651C>G	ENSP00000494949.1:n.10-7651C>G
ENST00000646360.1:n.2016-999C>G
ENST00000646462.1:c.1439-999C>G
ENST00000646608.1:c.4287-999C>G
ENST00000646609.1:n.704-999C>G
ENST00000646806.1:c.5302-999C>G	ENSP00000494574.1:n.5302-999C>G
ENST00000647112.1:n.598-999C>G
ENST00000647394.1:n.1123-999C>G
ENST00000647483.1:c.3411-999C>G
ENST00000647535.1:n.2232-999C>G
ENST00000357008.6:c.5362-999C>G	ENSP00000349508.2:n.5362-999C>G
ENST00000544040.5:c.5341-999C>G	ENSP00000440542.1:n.5341-999C>G
ENST00000544484.5:c.5437-999C>G	ENSP00000440392.1:n.5437-999C>G
NM_001273.3:c.5362-999C>G	NP_001264.2:n.5362-999C>G
NM_001297553.1:c.5341-999C>G	NP_001284482.1:n.5341-999C>G
XM_005253668.3:c.5341-999C>G	XP_005253725.1:n.5341-999C>G
XM_006718958.1:c.5446-999C>G	XP_006719021.1:n.5446-999C>G
XM_006718959.1:c.5368-999C>G	XP_006719022.1:n.5368-999C>G
XM_006718960.1:c.5365-999C>G	XP_006719023.1:n.5365-999C>G
XM_006718961.2:c.5347-999C>G	XP_006719024.1:n.5347-999C>G
XM_006718962.1:c.5329-999C>G	XP_006719025.1:n.5329-999C>G
NM_001273.4:c.5362-999C>G	NP_001264.2:n.5362-999C>G
NM_001297553.2:c.5341-999C>G	NP_001284482.1:n.5341-999C>G
NM_001363606.1:c.5329-999C>G	NP_001350535.1:n.5329-999C>G
XM_017018725.1:c.5368-999C>G	XP_016874214.1:n.5368-999C>G
XM_017018726.1:c.5362-999C>G	XP_016874215.1:n.5362-999C>G
XM_017018727.1:c.5359-999C>G	XP_016874216.1:n.5359-999C>G
XM_017018728.1:c.5359-999C>G	XP_016874217.1:n.5359-999C>G
XM_017018729.1:c.5341-999C>G	XP_016874218.1:n.5341-999C>G
XM_017018730.1:c.5323-999C>G	XP_016874219.1:n.5323-999C>G
XM_017018731.1:c.5323-999C>G	XP_016874220.1:n.5323-999C>G
XM_017018732.1:c.5308-999C>G	XP_016874221.1:n.5308-999C>G
XM_017018733.1:c.5302-999C>G	XP_016874222.1:n.5302-999C>G
XM_017018734.1:c.5302-999C>G	XP_016874223.1:n.5302-999C>G
XM_024448802.1:c.5446-999C>G	XP_024304570.1:n.5446-999C>G
XM_024448803.1:c.5425-999C>G	XP_024304571.1:n.5425-999C>G
XM_024448804.1:c.5407-999C>G	XP_024304572.1:n.5407-999C>G
XM_024448805.1:c.5386-999C>G	XP_024304573.1:n.5386-999C>G
NM_001273.5:c.5362-999C>G MANE Select	NP_001264.2:n.5362-999C>G
NM_001363606.2:c.5329-999C>G	NP_001350535.1:n.5329-999C>G