Canonical Allele Identifier: CA394803111

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14022064A>T (hg19) ; chr16:g.13928207A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13928207A>T , CM000678.2:g.13928207A>T	GRCh38
NC_000016.9:g.14022064A>T , CM000678.1:g.14022064A>T	GRCh37
NC_000016.8:g.13929565A>T	NCBI36
NG_011442.1:g.13051A>T , LRG_463:g.13051A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682552.1:n.752A>T
ENST00000682568.1:n.694A>T
ENST00000682617.1:c.902A>T	ENSP00000507912.1:p.Glu301Val
ENST00000682826.1:c.764A>T	ENSP00000507274.1:p.Glu255Val
ENST00000682909.1:n.2804A>T
ENST00000683277.1:n.2409A>T
ENST00000683407.1:n.772A>T
ENST00000683962.1:c.*458A>T	ENSP00000506854.1:n.*458A>T
ENST00000311895.8:c.764A>T MANE Select	ENSP00000310520.7:p.Glu255Val
ENST00000311895.7:c.764A>T	ENSP00000310520.7:p.Glu255Val
ENST00000574194.1:c.291A>T
ENST00000574781.1:n.441A>T
ENST00000575156.5:c.764A>T	ENSP00000459933.1:p.Glu255Val
NM_005236.2:c.764A>T , LRG_463t1:c.764A>T	NP_005227.1:p.Glu255Val
XM_011522424.1:c.902A>T	XP_011520726.1:p.Glu301Val
XM_011522425.1:c.221A>T	XP_011520727.1:p.Glu74Val
XR_932805.1:n.923A>T
XM_011522424.3:c.902A>T	XP_011520726.1:p.Glu301Val
XM_017023043.2:c.-174A>T	XP_016878532.1:n.-174A>T
NM_005236.3:c.764A>T MANE Select	NP_005227.1:p.Glu255Val