Canonical Allele Identifier: CA394821916

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14041572G>T (hg19) ; chr16:g.13947715G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947715G>T , CM000678.2:g.13947715G>T	GRCh38
NC_000016.9:g.14041572G>T , CM000678.1:g.14041572G>T	GRCh37
NC_000016.8:g.13949073G>T	NCBI36
NG_011442.1:g.32559G>T , LRG_463:g.32559G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2257G>T	ENSP00000507912.1:p.Glu753Ter
ENST00000683962.1:c.*1813G>T	ENSP00000506854.1:n.*1813G>T
ENST00000311895.8:c.2119G>T MANE Select	ENSP00000310520.7:p.Glu707Ter
ENST00000311895.7:c.2119G>T	ENSP00000310520.7:p.Glu707Ter
ENST00000389138.7:n.1396G>T
ENST00000462862.1:c.432G>T	ENSP00000461322.1:n.432G>T
NM_005236.2:c.2119G>T , LRG_463t1:c.2119G>T	NP_005227.1:p.Glu707Ter
XM_011522424.1:c.2257G>T	XP_011520726.1:p.Glu753Ter
XM_011522425.1:c.1576G>T	XP_011520727.1:p.Glu526Ter
XM_011522426.1:c.1330G>T	XP_011520728.1:p.Glu444Ter
XM_011522427.1:c.769G>T	XP_011520729.1:p.Glu257Ter
XR_932805.1:n.2278G>T
XM_011522424.3:c.2257G>T	XP_011520726.1:p.Glu753Ter
XM_017023043.2:c.1330G>T	XP_016878532.1:p.Glu444Ter
NM_005236.3:c.2119G>T MANE Select	NP_005227.1:p.Glu707Ter