Canonical Allele Identifier: CA383592451

Gene: CHD4

Linked Data

• gnomAD v4: 12-6593222-C-T
• MyVariant Identifiers: chr12:g.6702388C>T (hg19) ; chr12:g.6593222C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6593222C>T , CM000674.2:g.6593222C>T	GRCh38
NC_000012.11:g.6702388C>T , CM000674.1:g.6702388C>T	GRCh37
NC_000012.10:g.6572649C>T	NCBI36
NG_052823.1:g.19218G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357008.7:c.2482G>A	ENSP00000349508.3:p.Ala828Thr
ENST00000544040.7:c.2521G>A MANE Select	ENSP00000440542.2:p.Ala841Thr
ENST00000544484.6:c.2512G>A	ENSP00000440392.1:p.Ala838Thr
ENST00000642594.1:c.2447G>A
ENST00000642810.1:c.2461G>A	ENSP00000495160.1:p.Ala821Thr
ENST00000642879.1:c.2461G>A	ENSP00000494456.1:p.Ala821Thr
ENST00000643335.1:c.2500G>A	ENSP00000496358.1:p.Ala834Thr
ENST00000643815.1:c.1238G>A
ENST00000644137.1:c.2500G>A	ENSP00000495816.1:p.Ala834Thr
ENST00000644289.1:c.2488G>A	ENSP00000496707.1:p.Ala830Thr
ENST00000644352.1:c.379G>A	ENSP00000494981.1:p.Ala127Thr
ENST00000644356.1:n.476G>A
ENST00000644480.2:c.2500G>A	ENSP00000493629.2:p.Ala834Thr
ENST00000644801.1:c.2500G>A	ENSP00000496660.1:p.Ala834Thr
ENST00000645005.1:c.2521G>A	ENSP00000493471.1:p.Ala841Thr
ENST00000645022.1:c.2500G>A	ENSP00000496163.1:p.Ala834Thr
ENST00000645095.1:c.2521G>A	ENSP00000496634.1:p.Ala841Thr
ENST00000645645.1:c.2482G>A	ENSP00000496543.1:p.Ala828Thr
ENST00000646268.1:c.2500G>A	ENSP00000495023.1:p.Ala834Thr
ENST00000646366.1:n.2101G>A
ENST00000646608.1:c.1449G>A
ENST00000646806.1:c.2461G>A	ENSP00000494574.1:p.Ala821Thr
ENST00000647483.1:c.522G>A
ENST00000357008.6:c.2521G>A	ENSP00000349508.2:p.Ala841Thr
ENST00000544040.5:c.2500G>A	ENSP00000440542.1:p.Ala834Thr
ENST00000544484.5:c.2512G>A	ENSP00000440392.1:p.Ala838Thr
NM_001273.3:c.2521G>A	NP_001264.2:p.Ala841Thr
NM_001297553.1:c.2500G>A	NP_001284482.1:p.Ala834Thr
XM_005253668.3:c.2500G>A	XP_005253725.1:p.Ala834Thr
XM_006718958.1:c.2521G>A	XP_006719021.1:p.Ala841Thr
XM_006718959.1:c.2521G>A	XP_006719022.1:p.Ala841Thr
XM_006718960.1:c.2521G>A	XP_006719023.1:p.Ala841Thr
XM_006718961.2:c.2500G>A	XP_006719024.1:p.Ala834Thr
XM_006718962.1:c.2482G>A	XP_006719025.1:p.Ala828Thr
NM_001273.4:c.2521G>A	NP_001264.2:p.Ala841Thr
NM_001297553.2:c.2500G>A	NP_001284482.1:p.Ala834Thr
NM_001363606.1:c.2482G>A	NP_001350535.1:p.Ala828Thr
XM_017018725.1:c.2521G>A	XP_016874214.1:p.Ala841Thr
XM_017018726.1:c.2521G>A	XP_016874215.1:p.Ala841Thr
XM_017018727.1:c.2521G>A	XP_016874216.1:p.Ala841Thr
XM_017018728.1:c.2521G>A	XP_016874217.1:p.Ala841Thr
XM_017018729.1:c.2500G>A	XP_016874218.1:p.Ala834Thr
XM_017018730.1:c.2482G>A	XP_016874219.1:p.Ala828Thr
XM_017018731.1:c.2482G>A	XP_016874220.1:p.Ala828Thr
XM_017018732.1:c.2461G>A	XP_016874221.1:p.Ala821Thr
XM_017018733.1:c.2461G>A	XP_016874222.1:p.Ala821Thr
XM_017018734.1:c.2461G>A	XP_016874223.1:p.Ala821Thr
XM_024448802.1:c.2521G>A	XP_024304570.1:p.Ala841Thr
XM_024448803.1:c.2500G>A	XP_024304571.1:p.Ala834Thr
XM_024448804.1:c.2482G>A	XP_024304572.1:p.Ala828Thr
XM_024448805.1:c.2461G>A	XP_024304573.1:p.Ala821Thr
NM_001273.5:c.2521G>A MANE Select	NP_001264.2:p.Ala841Thr
NM_001363606.2:c.2482G>A	NP_001350535.1:p.Ala828Thr