Canonical Allele Identifier: CA6411956

Gene: CHD4

Linked Data

• ClinVar Variation Id: 2642628
• ClinVar RCV Id: RCV003396153
• dbSNP Id: rs753004819
• ExAC: 12:6702572 CCT / C
• gnomAD v2: 12-6702572-CCT-C
• gnomAD v3: 12-6593406-CCT-C
• gnomAD v4: 12-6593406-CCT-C
• MyVariant Identifiers: chr12:g.6702573_6702574del (hg19) ; chr12:g.6593407_6593408del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6593407_6593408del , CM000674.2:g.6593407_6593408del	GRCh38
NC_000012.11:g.6702573_6702574del , CM000674.1:g.6702573_6702574del	GRCh37
NC_000012.10:g.6572834_6572835del	NCBI36
NG_052823.1:g.19032_19033del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357008.7:c.2475+8_2475+9del	ENSP00000349508.3:n.2475+8_2475+9del
ENST00000544040.7:c.2514+8_2514+9del MANE Select	ENSP00000440542.2:n.2514+8_2514+9del
ENST00000544484.6:c.2505+8_2505+9del	ENSP00000440392.1:n.2505+8_2505+9del
ENST00000642594.1:c.2440+8_2440+9del
ENST00000642810.1:c.2454+8_2454+9del	ENSP00000495160.1:n.2454+8_2454+9del
ENST00000642879.1:c.2454+8_2454+9del	ENSP00000494456.1:n.2454+8_2454+9del
ENST00000643335.1:c.2493+8_2493+9del	ENSP00000496358.1:n.2493+8_2493+9del
ENST00000643815.1:c.1231+8_1231+9del
ENST00000644137.1:c.2493+8_2493+9del	ENSP00000495816.1:n.2493+8_2493+9del
ENST00000644289.1:c.2481+8_2481+9del	ENSP00000496707.1:n.2481+8_2481+9del
ENST00000644352.1:c.372+8_372+9del	ENSP00000494981.1:n.372+8_372+9del
ENST00000644356.1:n.469+8_469+9del
ENST00000644480.2:c.2493+8_2493+9del	ENSP00000493629.2:n.2493+8_2493+9del
ENST00000644801.1:c.2493+8_2493+9del	ENSP00000496660.1:n.2493+8_2493+9del
ENST00000645005.1:c.2514+8_2514+9del	ENSP00000493471.1:n.2514+8_2514+9del
ENST00000645022.1:c.2493+8_2493+9del	ENSP00000496163.1:n.2493+8_2493+9del
ENST00000645095.1:c.2514+8_2514+9del	ENSP00000496634.1:n.2514+8_2514+9del
ENST00000645645.1:c.2475+8_2475+9del	ENSP00000496543.1:n.2475+8_2475+9del
ENST00000646268.1:c.2493+8_2493+9del	ENSP00000495023.1:n.2493+8_2493+9del
ENST00000646366.1:n.2094+8_2094+9del
ENST00000646608.1:c.1442+8_1442+9del
ENST00000646806.1:c.2454+8_2454+9del	ENSP00000494574.1:n.2454+8_2454+9del
ENST00000647483.1:c.515+8_515+9del
ENST00000357008.6:c.2514+8_2514+9del	ENSP00000349508.2:n.2514+8_2514+9del
ENST00000544040.5:c.2493+8_2493+9del	ENSP00000440542.1:n.2493+8_2493+9del
ENST00000544484.5:c.2505+8_2505+9del	ENSP00000440392.1:n.2505+8_2505+9del
NM_001273.3:c.2514+8_2514+9del	NP_001264.2:n.2514+8_2514+9del
NM_001297553.1:c.2493+8_2493+9del	NP_001284482.1:n.2493+8_2493+9del
XM_005253668.3:c.2493+8_2493+9del	XP_005253725.1:n.2493+8_2493+9del
XM_006718958.1:c.2514+8_2514+9del	XP_006719021.1:n.2514+8_2514+9del
XM_006718959.1:c.2514+8_2514+9del	XP_006719022.1:n.2514+8_2514+9del
XM_006718960.1:c.2514+8_2514+9del	XP_006719023.1:n.2514+8_2514+9del
XM_006718961.2:c.2493+8_2493+9del	XP_006719024.1:n.2493+8_2493+9del
XM_006718962.1:c.2475+8_2475+9del	XP_006719025.1:n.2475+8_2475+9del
NM_001273.4:c.2514+8_2514+9del	NP_001264.2:n.2514+8_2514+9del
NM_001297553.2:c.2493+8_2493+9del	NP_001284482.1:n.2493+8_2493+9del
NM_001363606.1:c.2475+8_2475+9del	NP_001350535.1:n.2475+8_2475+9del
XM_017018725.1:c.2514+8_2514+9del	XP_016874214.1:n.2514+8_2514+9del
XM_017018726.1:c.2514+8_2514+9del	XP_016874215.1:n.2514+8_2514+9del
XM_017018727.1:c.2514+8_2514+9del	XP_016874216.1:n.2514+8_2514+9del
XM_017018728.1:c.2514+8_2514+9del	XP_016874217.1:n.2514+8_2514+9del
XM_017018729.1:c.2493+8_2493+9del	XP_016874218.1:n.2493+8_2493+9del
XM_017018730.1:c.2475+8_2475+9del	XP_016874219.1:n.2475+8_2475+9del
XM_017018731.1:c.2475+8_2475+9del	XP_016874220.1:n.2475+8_2475+9del
XM_017018732.1:c.2454+8_2454+9del	XP_016874221.1:n.2454+8_2454+9del
XM_017018733.1:c.2454+8_2454+9del	XP_016874222.1:n.2454+8_2454+9del
XM_017018734.1:c.2454+8_2454+9del	XP_016874223.1:n.2454+8_2454+9del
XM_024448802.1:c.2514+8_2514+9del	XP_024304570.1:n.2514+8_2514+9del
XM_024448803.1:c.2493+8_2493+9del	XP_024304571.1:n.2493+8_2493+9del
XM_024448804.1:c.2475+8_2475+9del	XP_024304572.1:n.2475+8_2475+9del
XM_024448805.1:c.2454+8_2454+9del	XP_024304573.1:n.2454+8_2454+9del
NM_001273.5:c.2514+8_2514+9del MANE Select	NP_001264.2:n.2514+8_2514+9del
NM_001363606.2:c.2475+8_2475+9del	NP_001350535.1:n.2475+8_2475+9del