Canonical Allele Identifier: CA394802549

Gene: ERCC4

Linked Data

• dbSNP Id: rs2141946145
• MyVariant Identifiers: chr16:g.14021966G>A (hg19) ; chr16:g.13928109G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13928109G>A , CM000678.2:g.13928109G>A	GRCh38
NC_000016.9:g.14021966G>A , CM000678.1:g.14021966G>A	GRCh37
NC_000016.8:g.13929467G>A	NCBI36
NG_011442.1:g.12953G>A , LRG_463:g.12953G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682552.1:n.654G>A
ENST00000682568.1:n.596G>A
ENST00000682617.1:c.804G>A	ENSP00000507912.1:p.Met268Ile
ENST00000682826.1:c.666G>A	ENSP00000507274.1:p.Met222Ile
ENST00000682909.1:n.2706G>A
ENST00000683277.1:n.2311G>A
ENST00000683407.1:n.674G>A
ENST00000683962.1:c.*360G>A	ENSP00000506854.1:n.*360G>A
ENST00000311895.8:c.666G>A MANE Select	ENSP00000310520.7:p.Met222Ile
ENST00000311895.7:c.666G>A	ENSP00000310520.7:p.Met222Ile
ENST00000574194.1:c.206-13G>A
ENST00000574781.1:n.343G>A
ENST00000575156.5:c.666G>A	ENSP00000459933.1:p.Met222Ile
NM_005236.2:c.666G>A , LRG_463t1:c.666G>A	NP_005227.1:p.Met222Ile
XM_011522424.1:c.804G>A	XP_011520726.1:p.Met268Ile
XM_011522425.1:c.123G>A	XP_011520727.1:p.Met41Ile
XR_932805.1:n.825G>A
XM_011522424.3:c.804G>A	XP_011520726.1:p.Met268Ile
XM_017023043.2:c.-272G>A	XP_016878532.1:n.-272G>A
NM_005236.3:c.666G>A MANE Select	NP_005227.1:p.Met222Ile