Canonical Allele Identifier: CA394803113

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14022065A>T (hg19) ; chr16:g.13928208A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13928208A>T , CM000678.2:g.13928208A>T	GRCh38
NC_000016.9:g.14022065A>T , CM000678.1:g.14022065A>T	GRCh37
NC_000016.8:g.13929566A>T	NCBI36
NG_011442.1:g.13052A>T , LRG_463:g.13052A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682552.1:n.753A>T
ENST00000682568.1:n.695A>T
ENST00000682617.1:c.903A>T	ENSP00000507912.1:p.Glu301Asp
ENST00000682826.1:c.765A>T	ENSP00000507274.1:p.Glu255Asp
ENST00000682909.1:n.2805A>T
ENST00000683277.1:n.2410A>T
ENST00000683407.1:n.773A>T
ENST00000683962.1:c.*459A>T	ENSP00000506854.1:n.*459A>T
ENST00000311895.8:c.765A>T MANE Select	ENSP00000310520.7:p.Glu255Asp
ENST00000311895.7:c.765A>T	ENSP00000310520.7:p.Glu255Asp
ENST00000574194.1:c.292A>T
ENST00000574781.1:n.442A>T
ENST00000575156.5:c.765A>T	ENSP00000459933.1:p.Glu255Asp
NM_005236.2:c.765A>T , LRG_463t1:c.765A>T	NP_005227.1:p.Glu255Asp
XM_011522424.1:c.903A>T	XP_011520726.1:p.Glu301Asp
XM_011522425.1:c.222A>T	XP_011520727.1:p.Glu74Asp
XR_932805.1:n.924A>T
XM_011522424.3:c.903A>T	XP_011520726.1:p.Glu301Asp
XM_017023043.2:c.-173A>T	XP_016878532.1:n.-173A>T
NM_005236.3:c.765A>T MANE Select	NP_005227.1:p.Glu255Asp