Canonical Allele Identifier: CA394811464

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029326G>C (hg19) ; chr16:g.13935469G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935469G>C , CM000678.2:g.13935469G>C	GRCh38
NC_000016.9:g.14029326G>C , CM000678.1:g.14029326G>C	GRCh37
NC_000016.8:g.13936827G>C	NCBI36
NG_011442.1:g.20313G>C , LRG_463:g.20313G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1615G>C
ENST00000682617.1:c.1675G>C	ENSP00000507912.1:p.Gly559Arg
ENST00000682826.1:c.*851G>C	ENSP00000507274.1:n.*851G>C
ENST00000682909.1:n.3577G>C
ENST00000683277.1:n.3182G>C
ENST00000683407.1:n.1545G>C
ENST00000683962.1:c.*1231G>C	ENSP00000506854.1:n.*1231G>C
ENST00000311895.8:c.1537G>C MANE Select	ENSP00000310520.7:p.Gly513Arg
ENST00000311895.7:c.1537G>C	ENSP00000310520.7:p.Gly513Arg
ENST00000389138.7:n.814G>C
NM_005236.2:c.1537G>C , LRG_463t1:c.1537G>C	NP_005227.1:p.Gly513Arg
XM_011522424.1:c.1675G>C	XP_011520726.1:p.Gly559Arg
XM_011522425.1:c.994G>C	XP_011520727.1:p.Gly332Arg
XM_011522426.1:c.748G>C	XP_011520728.1:p.Gly250Arg
XM_011522427.1:c.187G>C	XP_011520729.1:p.Gly63Arg
XR_932805.1:n.1696G>C
XM_011522424.3:c.1675G>C	XP_011520726.1:p.Gly559Arg
XM_017023043.2:c.748G>C	XP_016878532.1:p.Gly250Arg
NM_005236.3:c.1537G>C MANE Select	NP_005227.1:p.Gly513Arg