Canonical Allele Identifier: CA278485657

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 1137949
• ClinVar RCV Id: RCV001474103
• dbSNP Id: rs1031792719
• MyVariant Identifiers: chr16:g.14041901G>A (hg19) ; chr16:g.13948044G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948044G>A , CM000678.2:g.13948044G>A	GRCh38
NC_000016.9:g.14041901G>A , CM000678.1:g.14041901G>A	GRCh37
NC_000016.8:g.13949402G>A	NCBI36
NG_011442.1:g.32888G>A , LRG_463:g.32888G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2586G>A	ENSP00000507912.1:p.Leu862=
ENST00000683962.1:c.*2142G>A	ENSP00000506854.1:n.*2142G>A
ENST00000311895.8:c.2448G>A MANE Select	ENSP00000310520.7:p.Leu816=
ENST00000311895.7:c.2448G>A	ENSP00000310520.7:p.Leu816=
ENST00000389138.7:n.1725G>A
NM_005236.2:c.2448G>A , LRG_463t1:c.2448G>A	NP_005227.1:p.Leu816=
XM_011522424.1:c.2586G>A	XP_011520726.1:p.Leu862=
XM_011522425.1:c.1905G>A	XP_011520727.1:p.Leu635=
XM_011522426.1:c.1659G>A	XP_011520728.1:p.Leu553=
XM_011522427.1:c.1098G>A	XP_011520729.1:p.Leu366=
XR_932805.1:n.2607G>A
XM_011522424.3:c.2586G>A	XP_011520726.1:p.Leu862=
XM_017023043.2:c.1659G>A	XP_016878532.1:p.Leu553=
NM_005236.3:c.2448G>A MANE Select	NP_005227.1:p.Leu816=