Canonical Allele Identifier: CA13744023

Gene: CHD4

Linked Data

• dbSNP Id: rs1057510
• gnomAD v2: 12-6683287-G-A
• gnomAD v3: 12-6574121-G-A
• gnomAD v4: 12-6574121-G-A
• MyVariant Identifiers: chr12:g.6683287G>A (hg19) ; chr12:g.6574121G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6574121G>A , CM000674.2:g.6574121G>A	GRCh38
NC_000012.11:g.6683287G>A , CM000674.1:g.6683287G>A	GRCh37
NC_000012.10:g.6553548G>A	NCBI36
NG_052823.1:g.38319C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000357008.7:c.5329-852C>T	ENSP00000349508.3:n.5329-852C>T
ENST00000544040.7:c.5362-852C>T MANE Select	ENSP00000440542.2:n.5362-852C>T
ENST00000544484.6:c.5437-852C>T	ENSP00000440392.1:n.5437-852C>T
ENST00000642594.1:c.5288-852C>T
ENST00000642637.1:c.1593-852C>T
ENST00000642810.1:c.*1026-852C>T	ENSP00000495160.1:n.*1026-852C>T
ENST00000642860.1:n.813-852C>T
ENST00000642879.1:c.5386-852C>T	ENSP00000494456.1:n.5386-852C>T
ENST00000643335.1:c.5335-852C>T	ENSP00000496358.1:n.5335-852C>T
ENST00000643367.1:n.492-852C>T
ENST00000643538.1:c.1883-852C>T	ENSP00000494571.1:n.1883-852C>T
ENST00000643815.1:c.4076-852C>T
ENST00000644077.1:c.1295-852C>T
ENST00000644137.1:c.*501-852C>T	ENSP00000495816.1:n.*501-852C>T
ENST00000644352.1:c.3271-852C>T	ENSP00000494981.1:n.3271-852C>T
ENST00000644480.2:c.*443-852C>T	ENSP00000493629.2:n.*443-852C>T
ENST00000644652.1:c.754-852C>T
ENST00000645005.1:c.5368-852C>T	ENSP00000493471.1:n.5368-852C>T
ENST00000645022.1:c.5341-852C>T	ENSP00000496163.1:n.5341-852C>T
ENST00000645095.1:c.5446-852C>T	ENSP00000496634.1:n.5446-852C>T
ENST00000645199.1:n.783-852C>T
ENST00000645645.1:c.5323-852C>T	ENSP00000496543.1:n.5323-852C>T
ENST00000645991.1:c.440-852C>T	ENSP00000496457.1:n.440-852C>T
ENST00000646268.1:c.*1026-852C>T	ENSP00000495023.1:n.*1026-852C>T
ENST00000646322.1:c.10-7504C>T	ENSP00000494949.1:n.10-7504C>T
ENST00000646360.1:n.2016-852C>T
ENST00000646462.1:c.1439-852C>T
ENST00000646608.1:c.4287-852C>T
ENST00000646609.1:n.704-852C>T
ENST00000646806.1:c.5302-852C>T	ENSP00000494574.1:n.5302-852C>T
ENST00000647112.1:n.598-852C>T
ENST00000647394.1:n.1123-852C>T
ENST00000647483.1:c.3411-852C>T
ENST00000647535.1:n.2232-852C>T
ENST00000357008.6:c.5362-852C>T	ENSP00000349508.2:n.5362-852C>T
ENST00000544040.5:c.5341-852C>T	ENSP00000440542.1:n.5341-852C>T
ENST00000544484.5:c.5437-852C>T	ENSP00000440392.1:n.5437-852C>T
NM_001273.3:c.5362-852C>T	NP_001264.2:n.5362-852C>T
NM_001297553.1:c.5341-852C>T	NP_001284482.1:n.5341-852C>T
XM_005253668.3:c.5341-852C>T	XP_005253725.1:n.5341-852C>T
XM_006718958.1:c.5446-852C>T	XP_006719021.1:n.5446-852C>T
XM_006718959.1:c.5368-852C>T	XP_006719022.1:n.5368-852C>T
XM_006718960.1:c.5365-852C>T	XP_006719023.1:n.5365-852C>T
XM_006718961.2:c.5347-852C>T	XP_006719024.1:n.5347-852C>T
XM_006718962.1:c.5329-852C>T	XP_006719025.1:n.5329-852C>T
NM_001273.4:c.5362-852C>T	NP_001264.2:n.5362-852C>T
NM_001297553.2:c.5341-852C>T	NP_001284482.1:n.5341-852C>T
NM_001363606.1:c.5329-852C>T	NP_001350535.1:n.5329-852C>T
XM_017018725.1:c.5368-852C>T	XP_016874214.1:n.5368-852C>T
XM_017018726.1:c.5362-852C>T	XP_016874215.1:n.5362-852C>T
XM_017018727.1:c.5359-852C>T	XP_016874216.1:n.5359-852C>T
XM_017018728.1:c.5359-852C>T	XP_016874217.1:n.5359-852C>T
XM_017018729.1:c.5341-852C>T	XP_016874218.1:n.5341-852C>T
XM_017018730.1:c.5323-852C>T	XP_016874219.1:n.5323-852C>T
XM_017018731.1:c.5323-852C>T	XP_016874220.1:n.5323-852C>T
XM_017018732.1:c.5308-852C>T	XP_016874221.1:n.5308-852C>T
XM_017018733.1:c.5302-852C>T	XP_016874222.1:n.5302-852C>T
XM_017018734.1:c.5302-852C>T	XP_016874223.1:n.5302-852C>T
XM_024448802.1:c.5446-852C>T	XP_024304570.1:n.5446-852C>T
XM_024448803.1:c.5425-852C>T	XP_024304571.1:n.5425-852C>T
XM_024448804.1:c.5407-852C>T	XP_024304572.1:n.5407-852C>T
XM_024448805.1:c.5386-852C>T	XP_024304573.1:n.5386-852C>T
NM_001273.5:c.5362-852C>T MANE Select	NP_001264.2:n.5362-852C>T
NM_001363606.2:c.5329-852C>T	NP_001350535.1:n.5329-852C>T