Canonical Allele Identifier: CA2209073402

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935643C= , CM000678.2:g.13935643C=	GRCh38
NC_000016.9:g.14029500C= , CM000678.1:g.14029500C=	GRCh37
NC_000016.8:g.13937001C=	NCBI36
NG_011442.1:g.20487C= , LRG_463:g.20487C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1789C=
ENST00000682617.1:c.1849C=	ENSP00000507912.1:p.His617=
ENST00000682826.1:c.*1025C=	ENSP00000507274.1:n.*1025C=
ENST00000682909.1:n.3751C=
ENST00000683277.1:n.3356C=
ENST00000683407.1:n.1719C=
ENST00000683962.1:c.*1405C=	ENSP00000506854.1:n.*1405C=
ENST00000311895.8:c.1711C= MANE Select	ENSP00000310520.7:p.His571=
ENST00000311895.7:c.1711C=	ENSP00000310520.7:p.His571=
ENST00000389138.7:n.988C=
NM_005236.2:c.1711C= , LRG_463t1:c.1711C=	NP_005227.1:p.His571=
XM_011522424.1:c.1849C=	XP_011520726.1:p.His617=
XM_011522425.1:c.1168C=	XP_011520727.1:p.His390=
XM_011522426.1:c.922C=	XP_011520728.1:p.His308=
XM_011522427.1:c.361C=	XP_011520729.1:p.His121=
XR_932805.1:n.1870C=
XM_011522424.3:c.1849C=	XP_011520726.1:p.His617=
XM_017023043.2:c.922C=	XP_016878532.1:p.His308=
NM_005236.3:c.1711C= MANE Select	NP_005227.1:p.His571=