Canonical Allele Identifier: CA493689884

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029442C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935585C>G , CM000678.2:g.13935585C>G	GRCh38
NC_000016.9:g.14029442C>G , CM000678.1:g.14029442C>G	GRCh37
NC_000016.8:g.13936943C>G	NCBI36
NG_011442.1:g.20429C>G , LRG_463:g.20429C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1731C>G
ENST00000682617.1:c.1791C>G	ENSP00000507912.1:p.Leu597=
ENST00000682826.1:c.*967C>G	ENSP00000507274.1:n.*967C>G
ENST00000682909.1:n.3693C>G
ENST00000683277.1:n.3298C>G
ENST00000683407.1:n.1661C>G
ENST00000683962.1:c.*1347C>G	ENSP00000506854.1:n.*1347C>G
ENST00000311895.8:c.1653C>G MANE Select	ENSP00000310520.7:p.Leu551=
ENST00000311895.7:c.1653C>G	ENSP00000310520.7:p.Leu551=
ENST00000389138.7:n.930C>G
NM_005236.2:c.1653C>G , LRG_463t1:c.1653C>G	NP_005227.1:p.Leu551=
XM_011522424.1:c.1791C>G	XP_011520726.1:p.Leu597=
XM_011522425.1:c.1110C>G	XP_011520727.1:p.Leu370=
XM_011522426.1:c.864C>G	XP_011520728.1:p.Leu288=
XM_011522427.1:c.303C>G	XP_011520729.1:p.Leu101=
XR_932805.1:n.1812C>G
XM_011522424.3:c.1791C>G	XP_011520726.1:p.Leu597=
XM_017023043.2:c.864C>G	XP_016878532.1:p.Leu288=
NM_005236.3:c.1653C>G MANE Select	NP_005227.1:p.Leu551=