Canonical Allele Identifier: CA493444489

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14042105C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948248C>T , CM000678.2:g.13948248C>T	GRCh38
NC_000016.9:g.14042105C>T , CM000678.1:g.14042105C>T	GRCh37
NC_000016.8:g.13949606C>T	NCBI36
NG_011442.1:g.33092C>T , LRG_463:g.33092C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682617.1:c.2790C>T	ENSP00000507912.1:p.Leu930=
ENST00000683962.1:c.*2346C>T	ENSP00000506854.1:n.*2346C>T
ENST00000311895.8:c.2652C>T MANE Select	ENSP00000310520.7:p.Leu884=
ENST00000311895.7:c.2652C>T	ENSP00000310520.7:p.Leu884=
ENST00000389138.7:n.1929C>T
NM_005236.2:c.2652C>T , LRG_463t1:c.2652C>T	NP_005227.1:p.Leu884=
XM_011522424.1:c.2790C>T	XP_011520726.1:p.Leu930=
XM_011522425.1:c.2109C>T	XP_011520727.1:p.Leu703=
XM_011522426.1:c.1863C>T	XP_011520728.1:p.Leu621=
XM_011522427.1:c.1302C>T	XP_011520729.1:p.Leu434=
XR_932805.1:n.2811C>T
XM_011522424.3:c.2790C>T	XP_011520726.1:p.Leu930=
XM_017023043.2:c.1863C>T	XP_016878532.1:p.Leu621=
NM_005236.3:c.2652C>T MANE Select	NP_005227.1:p.Leu884=