Canonical Allele Identifier: CA3222146599

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947690G= , CM000678.2:g.13947690G=	GRCh38
NC_000016.9:g.14041547G= , CM000678.1:g.14041547G=	GRCh37
NC_000016.8:g.13949048G=	NCBI36
NG_011442.1:g.32534G= , LRG_463:g.32534G=

Transcript Alleles

HGVS	Amino-acid Change
NM_005236.3:c.2094G= MANE Select	NP_005227.1:p.Leu698=
ENST00000311895.8:c.2094G= MANE Select	ENSP00000310520.7:p.Leu698=
NM_005236.2:c.2094G= , LRG_463t1:c.2094G=	NP_005227.1:p.Leu698=
ENST00000311895.7:c.2094G=	ENSP00000310520.7:p.Leu698=
ENST00000389138.7:n.1371G=
ENST00000462862.1:c.407G=	ENSP00000461322.1:n.407G=
ENST00000682617.1:c.2232G=	ENSP00000507912.1:p.Leu744=
ENST00000683962.1:c.*1788G=	ENSP00000506854.1:n.*1788G=
XM_011522424.1:c.2232G=	XP_011520726.1:p.Leu744=
XM_011522424.3:c.2232G=	XP_011520726.1:p.Leu744=
XM_011522425.1:c.1551G=	XP_011520727.1:p.Leu517=
XM_011522426.1:c.1305G=	XP_011520728.1:p.Leu435=
XM_011522427.1:c.744G=	XP_011520729.1:p.Leu248=
XM_017023043.2:c.1305G=	XP_016878532.1:p.Leu435=
XR_932805.1:n.2253G=