Canonical Allele Identifier: CA394823308

Gene: ERCC4

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_005236.3:c.2381A>C MANE Select	NP_005227.1:p.His794Pro
ENST00000311895.8:c.2381A>C MANE Select	ENSP00000310520.7:p.His794Pro
NM_005236.2:c.2381A>C , LRG_463t1:c.2381A>C	NP_005227.1:p.His794Pro
ENST00000311895.7:c.2381A>C	ENSP00000310520.7:p.His794Pro
ENST00000389138.7:n.1658A>C
ENST00000462862.1:c.694A>C	ENSP00000461322.1:n.694A>C
ENST00000682617.1:c.2519A>C	ENSP00000507912.1:p.His840Pro
ENST00000683962.1:c.*2075A>C	ENSP00000506854.1:n.*2075A>C
XM_011522424.1:c.2519A>C	XP_011520726.1:p.His840Pro
XM_011522424.3:c.2519A>C	XP_011520726.1:p.His840Pro
XM_011522425.1:c.1838A>C	XP_011520727.1:p.His613Pro
XM_011522426.1:c.1592A>C	XP_011520728.1:p.His531Pro
XM_011522427.1:c.1031A>C	XP_011520729.1:p.His344Pro
XM_017023043.2:c.1592A>C	XP_016878532.1:p.His531Pro
XR_932805.1:n.2540A>C