Canonical Allele Identifier: CA394815993

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 3065023
• ClinVar RCV Id: RCV003990100
• MyVariant Identifiers: chr16:g.14014077G>A (hg19) ; chr16:g.13920220G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13920220G>A , CM000678.2:g.13920220G>A	GRCh38
NC_000016.9:g.14014077G>A , CM000678.1:g.14014077G>A	GRCh37
NC_000016.8:g.13921578G>A	NCBI36
NG_011442.1:g.5064G>A , LRG_463:g.5064G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682552.1:n.43G>A
ENST00000682617.1:c.55G>A	ENSP00000507912.1:p.Glu19Lys
ENST00000682826.1:c.55G>A	ENSP00000507274.1:p.Glu19Lys
ENST00000682909.1:n.64G>A
ENST00000683277.1:n.42G>A
ENST00000683407.1:n.63G>A
ENST00000683962.1:c.55G>A	ENSP00000506854.1:p.Glu19Lys
ENST00000311895.8:c.55G>A MANE Select	ENSP00000310520.7:p.Glu19Lys
ENST00000311895.7:c.55G>A	ENSP00000310520.7:p.Glu19Lys
ENST00000575156.5:c.55G>A	ENSP00000459933.1:p.Glu19Lys
ENST00000576348.1:n.30G>A
NM_005236.2:c.55G>A , LRG_463t1:c.55G>A	NP_005227.1:p.Glu19Lys
XM_011522424.1:c.55G>A	XP_011520726.1:p.Glu19Lys
XR_932805.1:n.76G>A
XR_933098.1:n.82+6305C>T
XR_933099.1:n.82+6305C>T
XR_933100.1:n.82+6305C>T
XM_011522424.3:c.55G>A	XP_011520726.1:p.Glu19Lys
XM_017023043.2:c.-883G>A	XP_016878532.1:n.-883G>A
NM_005236.3:c.55G>A MANE Select	NP_005227.1:p.Glu19Lys