Canonical Allele Identifier: CA16606376
Gene: CHD4 HGNC NCBI

Linked Data

ClinVar Variation Id: 380874
ClinVar RCV Id: RCV000419342
dbSNP Id: rs1057520911

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6592444A>T , CM000674.2:g.6592444A>T GRCh38
NC_000012.11:g.6701610A>T , CM000674.1:g.6701610A>T GRCh37
NC_000012.10:g.6571871A>T NCBI36
NG_052823.1:g.19996T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000357008.7:c.2858T>A ENSP00000349508.3:p.Met953Lys
ENST00000537634.2:n.123T>A
ENST00000544040.7:c.2897T>A MANE Select ENSP00000440542.2:p.Met966Lys
ENST00000544484.6:c.2888T>A ENSP00000440392.1:p.Met963Lys
ENST00000642594.1:c.2823T>A
ENST00000642810.1:c.2837T>A ENSP00000495160.1:p.Met946Lys
ENST00000642879.1:c.2837T>A ENSP00000494456.1:p.Met946Lys
ENST00000643335.1:c.2876T>A ENSP00000496358.1:p.Met959Lys
ENST00000643815.1:c.1614T>A
ENST00000644137.1:c.2876T>A ENSP00000495816.1:p.Met959Lys
ENST00000644289.1:c.2864T>A ENSP00000496707.1:p.Met955Lys
ENST00000644352.1:c.755T>A ENSP00000494981.1:p.Met252Lys
ENST00000644356.1:n.852T>A
ENST00000644480.2:c.2876T>A ENSP00000493629.2:p.Met959Lys
ENST00000644801.1:c.2876T>A ENSP00000496660.1:p.Met959Lys
ENST00000645005.1:c.2897T>A ENSP00000493471.1:p.Met966Lys
ENST00000645022.1:c.2876T>A ENSP00000496163.1:p.Met959Lys
ENST00000645095.1:c.2897T>A ENSP00000496634.1:p.Met966Lys
ENST00000645645.1:c.2858T>A ENSP00000496543.1:p.Met953Lys
ENST00000646268.1:c.2876T>A ENSP00000495023.1:p.Met959Lys
ENST00000646366.1:n.2477T>A
ENST00000646608.1:c.1825T>A
ENST00000646806.1:c.2837T>A ENSP00000494574.1:p.Met946Lys
ENST00000647483.1:c.898T>A
ENST00000357008.6:c.2897T>A ENSP00000349508.2:p.Met966Lys
ENST00000537634.1:n.22T>A
ENST00000544040.5:c.2876T>A ENSP00000440542.1:p.Met959Lys
ENST00000544484.5:c.2888T>A ENSP00000440392.1:p.Met963Lys
ENST00000545083.1:n.164T>A
NM_001273.3:c.2897T>A NP_001264.2:p.Met966Lys
NM_001297553.1:c.2876T>A NP_001284482.1:p.Met959Lys
XM_005253668.3:c.2876T>A XP_005253725.1:p.Met959Lys
XM_006718958.1:c.2897T>A XP_006719021.1:p.Met966Lys
XM_006718959.1:c.2897T>A XP_006719022.1:p.Met966Lys
XM_006718960.1:c.2897T>A XP_006719023.1:p.Met966Lys
XM_006718961.2:c.2876T>A XP_006719024.1:p.Met959Lys
XM_006718962.1:c.2858T>A XP_006719025.1:p.Met953Lys
NM_001273.4:c.2897T>A NP_001264.2:p.Met966Lys
NM_001297553.2:c.2876T>A NP_001284482.1:p.Met959Lys
NM_001363606.1:c.2858T>A NP_001350535.1:p.Met953Lys
XM_017018725.1:c.2897T>A XP_016874214.1:p.Met966Lys
XM_017018726.1:c.2897T>A XP_016874215.1:p.Met966Lys
XM_017018727.1:c.2897T>A XP_016874216.1:p.Met966Lys
XM_017018728.1:c.2897T>A XP_016874217.1:p.Met966Lys
XM_017018729.1:c.2876T>A XP_016874218.1:p.Met959Lys
XM_017018730.1:c.2858T>A XP_016874219.1:p.Met953Lys
XM_017018731.1:c.2858T>A XP_016874220.1:p.Met953Lys
XM_017018732.1:c.2837T>A XP_016874221.1:p.Met946Lys
XM_017018733.1:c.2837T>A XP_016874222.1:p.Met946Lys
XM_017018734.1:c.2837T>A XP_016874223.1:p.Met946Lys
XM_024448802.1:c.2897T>A XP_024304570.1:p.Met966Lys
XM_024448803.1:c.2876T>A XP_024304571.1:p.Met959Lys
XM_024448804.1:c.2858T>A XP_024304572.1:p.Met953Lys
XM_024448805.1:c.2837T>A XP_024304573.1:p.Met946Lys
NM_001273.5:c.2897T>A MANE Select NP_001264.2:p.Met966Lys
NM_001363606.2:c.2858T>A NP_001350535.1:p.Met953Lys