Canonical Allele Identifier: CA394812341

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029465G>T (hg19) ; chr16:g.13935608G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935608G>T , CM000678.2:g.13935608G>T	GRCh38
NC_000016.9:g.14029465G>T , CM000678.1:g.14029465G>T	GRCh37
NC_000016.8:g.13936966G>T	NCBI36
NG_011442.1:g.20452G>T , LRG_463:g.20452G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1754G>T
ENST00000682617.1:c.1814G>T	ENSP00000507912.1:p.Gly605Val
ENST00000682826.1:c.*990G>T	ENSP00000507274.1:n.*990G>T
ENST00000682909.1:n.3716G>T
ENST00000683277.1:n.3321G>T
ENST00000683407.1:n.1684G>T
ENST00000683962.1:c.*1370G>T	ENSP00000506854.1:n.*1370G>T
ENST00000311895.8:c.1676G>T MANE Select	ENSP00000310520.7:p.Gly559Val
ENST00000311895.7:c.1676G>T	ENSP00000310520.7:p.Gly559Val
ENST00000389138.7:n.953G>T
NM_005236.2:c.1676G>T , LRG_463t1:c.1676G>T	NP_005227.1:p.Gly559Val
XM_011522424.1:c.1814G>T	XP_011520726.1:p.Gly605Val
XM_011522425.1:c.1133G>T	XP_011520727.1:p.Gly378Val
XM_011522426.1:c.887G>T	XP_011520728.1:p.Gly296Val
XM_011522427.1:c.326G>T	XP_011520729.1:p.Gly109Val
XR_932805.1:n.1835G>T
XM_011522424.3:c.1814G>T	XP_011520726.1:p.Gly605Val
XM_017023043.2:c.887G>T	XP_016878532.1:p.Gly296Val
NM_005236.3:c.1676G>T MANE Select	NP_005227.1:p.Gly559Val