Canonical Allele Identifier: CA394823311

Gene: ERCC4

Linked Data

• dbSNP Id: rs2032553424
• gnomAD v3: 16-13947977-A-G
• gnomAD v4: 16-13947977-A-G
• MyVariant Identifiers: chr16:g.14041834A>G (hg19) ; chr16:g.13947977A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947977A>G , CM000678.2:g.13947977A>G	GRCh38
NC_000016.9:g.14041834A>G , CM000678.1:g.14041834A>G	GRCh37
NC_000016.8:g.13949335A>G	NCBI36
NG_011442.1:g.32821A>G , LRG_463:g.32821A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682617.1:c.2519A>G	ENSP00000507912.1:p.His840Arg
ENST00000683962.1:c.*2075A>G	ENSP00000506854.1:n.*2075A>G
ENST00000311895.8:c.2381A>G MANE Select	ENSP00000310520.7:p.His794Arg
ENST00000311895.7:c.2381A>G	ENSP00000310520.7:p.His794Arg
ENST00000389138.7:n.1658A>G
ENST00000462862.1:c.694A>G	ENSP00000461322.1:n.694A>G
NM_005236.2:c.2381A>G , LRG_463t1:c.2381A>G	NP_005227.1:p.His794Arg
XM_011522424.1:c.2519A>G	XP_011520726.1:p.His840Arg
XM_011522425.1:c.1838A>G	XP_011520727.1:p.His613Arg
XM_011522426.1:c.1592A>G	XP_011520728.1:p.His531Arg
XM_011522427.1:c.1031A>G	XP_011520729.1:p.His344Arg
XR_932805.1:n.2540A>G
XM_011522424.3:c.2519A>G	XP_011520726.1:p.His840Arg
XM_017023043.2:c.1592A>G	XP_016878532.1:p.His531Arg
NM_005236.3:c.2381A>G MANE Select	NP_005227.1:p.His794Arg