Canonical Allele Identifier: CA493690156

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14041967T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948110T>G , CM000678.2:g.13948110T>G	GRCh38
NC_000016.9:g.14041967T>G , CM000678.1:g.14041967T>G	GRCh37
NC_000016.8:g.13949468T>G	NCBI36
NG_011442.1:g.32954T>G , LRG_463:g.32954T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2652T>G	ENSP00000507912.1:p.Leu884=
ENST00000683962.1:c.*2208T>G	ENSP00000506854.1:n.*2208T>G
ENST00000311895.8:c.2514T>G MANE Select	ENSP00000310520.7:p.Leu838=
ENST00000311895.7:c.2514T>G	ENSP00000310520.7:p.Leu838=
ENST00000389138.7:n.1791T>G
NM_005236.2:c.2514T>G , LRG_463t1:c.2514T>G	NP_005227.1:p.Leu838=
XM_011522424.1:c.2652T>G	XP_011520726.1:p.Leu884=
XM_011522425.1:c.1971T>G	XP_011520727.1:p.Leu657=
XM_011522426.1:c.1725T>G	XP_011520728.1:p.Leu575=
XM_011522427.1:c.1164T>G	XP_011520729.1:p.Leu388=
XR_932805.1:n.2673T>G
XM_011522424.3:c.2652T>G	XP_011520726.1:p.Leu884=
XM_017023043.2:c.1725T>G	XP_016878532.1:p.Leu575=
NM_005236.3:c.2514T>G MANE Select	NP_005227.1:p.Leu838=