Canonical Allele Identifier: CA493428014

Gene: ERCC4

Linked Data

• dbSNP Id: rs1453967299
• MyVariant Identifiers: chr16:g.14024659G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13930802G>A , CM000678.2:g.13930802G>A	GRCh38
NC_000016.9:g.14024659G>A , CM000678.1:g.14024659G>A	GRCh37
NC_000016.8:g.13932160G>A	NCBI36
NG_011442.1:g.15646G>A , LRG_463:g.15646G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682552.1:n.873G>A
ENST00000682568.1:n.963G>A
ENST00000682617.1:c.1023G>A	ENSP00000507912.1:p.Leu341=
ENST00000682826.1:c.*199G>A	ENSP00000507274.1:n.*199G>A
ENST00000682909.1:n.2925G>A
ENST00000683277.1:n.2530G>A
ENST00000683407.1:n.893G>A
ENST00000683962.1:c.*579G>A	ENSP00000506854.1:n.*579G>A
ENST00000311895.8:c.885G>A MANE Select	ENSP00000310520.7:p.Leu295=
ENST00000311895.7:c.885G>A	ENSP00000310520.7:p.Leu295=
ENST00000574194.1:c.412G>A
ENST00000574781.1:n.562G>A
ENST00000575156.5:c.885G>A	ENSP00000459933.1:p.Leu295=
NM_005236.2:c.885G>A , LRG_463t1:c.885G>A	NP_005227.1:p.Leu295=
XM_011522424.1:c.1023G>A	XP_011520726.1:p.Leu341=
XM_011522425.1:c.342G>A	XP_011520727.1:p.Leu114=
XM_011522426.1:c.96G>A	XP_011520728.1:p.Leu32=
XR_932805.1:n.1044G>A
XM_011522424.3:c.1023G>A	XP_011520726.1:p.Leu341=
XM_017023043.2:c.96G>A	XP_016878532.1:p.Leu32=
NM_005236.3:c.885G>A MANE Select	NP_005227.1:p.Leu295=