Canonical Allele Identifier: CA394811454

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029324A>T (hg19) ; chr16:g.13935467A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935467A>T , CM000678.2:g.13935467A>T	GRCh38
NC_000016.9:g.14029324A>T , CM000678.1:g.14029324A>T	GRCh37
NC_000016.8:g.13936825A>T	NCBI36
NG_011442.1:g.20311A>T , LRG_463:g.20311A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682568.1:n.1613A>T
ENST00000682617.1:c.1673A>T	ENSP00000507912.1:p.Glu558Val
ENST00000682826.1:c.*849A>T	ENSP00000507274.1:n.*849A>T
ENST00000682909.1:n.3575A>T
ENST00000683277.1:n.3180A>T
ENST00000683407.1:n.1543A>T
ENST00000683962.1:c.*1229A>T	ENSP00000506854.1:n.*1229A>T
ENST00000311895.8:c.1535A>T MANE Select	ENSP00000310520.7:p.Glu512Val
ENST00000311895.7:c.1535A>T	ENSP00000310520.7:p.Glu512Val
ENST00000389138.7:n.812A>T
NM_005236.2:c.1535A>T , LRG_463t1:c.1535A>T	NP_005227.1:p.Glu512Val
XM_011522424.1:c.1673A>T	XP_011520726.1:p.Glu558Val
XM_011522425.1:c.992A>T	XP_011520727.1:p.Glu331Val
XM_011522426.1:c.746A>T	XP_011520728.1:p.Glu249Val
XM_011522427.1:c.185A>T	XP_011520729.1:p.Glu62Val
XR_932805.1:n.1694A>T
XM_011522424.3:c.1673A>T	XP_011520726.1:p.Glu558Val
XM_017023043.2:c.746A>T	XP_016878532.1:p.Glu249Val
NM_005236.3:c.1535A>T MANE Select	NP_005227.1:p.Glu512Val