Canonical Allele Identifier: CA394811611

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029362T>C (hg19) ; chr16:g.13935505T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935505T>C , CM000678.2:g.13935505T>C	GRCh38
NC_000016.9:g.14029362T>C , CM000678.1:g.14029362T>C	GRCh37
NC_000016.8:g.13936863T>C	NCBI36
NG_011442.1:g.20349T>C , LRG_463:g.20349T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1651T>C
ENST00000682617.1:c.1711T>C	ENSP00000507912.1:p.Cys571Arg
ENST00000682826.1:c.*887T>C	ENSP00000507274.1:n.*887T>C
ENST00000682909.1:n.3613T>C
ENST00000683277.1:n.3218T>C
ENST00000683407.1:n.1581T>C
ENST00000683962.1:c.*1267T>C	ENSP00000506854.1:n.*1267T>C
ENST00000311895.8:c.1573T>C MANE Select	ENSP00000310520.7:p.Cys525Arg
ENST00000311895.7:c.1573T>C	ENSP00000310520.7:p.Cys525Arg
ENST00000389138.7:n.850T>C
NM_005236.2:c.1573T>C , LRG_463t1:c.1573T>C	NP_005227.1:p.Cys525Arg
XM_011522424.1:c.1711T>C	XP_011520726.1:p.Cys571Arg
XM_011522425.1:c.1030T>C	XP_011520727.1:p.Cys344Arg
XM_011522426.1:c.784T>C	XP_011520728.1:p.Cys262Arg
XM_011522427.1:c.223T>C	XP_011520729.1:p.Cys75Arg
XR_932805.1:n.1732T>C
XM_011522424.3:c.1711T>C	XP_011520726.1:p.Cys571Arg
XM_017023043.2:c.784T>C	XP_016878532.1:p.Cys262Arg
NM_005236.3:c.1573T>C MANE Select	NP_005227.1:p.Cys525Arg