Canonical Allele Identifier: CA394817471

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14038605G>A (hg19) ; chr16:g.13944748G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13944748G>A , CM000678.2:g.13944748G>A	GRCh38
NC_000016.9:g.14038605G>A , CM000678.1:g.14038605G>A	GRCh37
NC_000016.8:g.13946106G>A	NCBI36
NG_011442.1:g.29592G>A , LRG_463:g.29592G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2068G>A	ENSP00000507912.1:p.Glu690Lys
ENST00000683962.1:c.*1624G>A	ENSP00000506854.1:n.*1624G>A
ENST00000311895.8:c.1930G>A MANE Select	ENSP00000310520.7:p.Glu644Lys
ENST00000311895.7:c.1930G>A	ENSP00000310520.7:p.Glu644Lys
ENST00000389138.7:n.1207G>A
ENST00000462862.1:c.243G>A	ENSP00000461322.1:n.243G>A
NM_005236.2:c.1930G>A , LRG_463t1:c.1930G>A	NP_005227.1:p.Glu644Lys
XM_011522424.1:c.2068G>A	XP_011520726.1:p.Glu690Lys
XM_011522425.1:c.1387G>A	XP_011520727.1:p.Glu463Lys
XM_011522426.1:c.1141G>A	XP_011520728.1:p.Glu381Lys
XM_011522427.1:c.580G>A	XP_011520729.1:p.Glu194Lys
XR_932805.1:n.2089G>A
XM_011522424.3:c.2068G>A	XP_011520726.1:p.Glu690Lys
XM_017023043.2:c.1141G>A	XP_016878532.1:p.Glu381Lys
NM_005236.3:c.1930G>A MANE Select	NP_005227.1:p.Glu644Lys