Canonical Allele Identifier: CA394812307

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029458C>T (hg19) ; chr16:g.13935601C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935601C>T , CM000678.2:g.13935601C>T	GRCh38
NC_000016.9:g.14029458C>T , CM000678.1:g.14029458C>T	GRCh37
NC_000016.8:g.13936959C>T	NCBI36
NG_011442.1:g.20445C>T , LRG_463:g.20445C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1747C>T
ENST00000682617.1:c.1807C>T	ENSP00000507912.1:p.Leu603Phe
ENST00000682826.1:c.*983C>T	ENSP00000507274.1:n.*983C>T
ENST00000682909.1:n.3709C>T
ENST00000683277.1:n.3314C>T
ENST00000683407.1:n.1677C>T
ENST00000683962.1:c.*1363C>T	ENSP00000506854.1:n.*1363C>T
ENST00000311895.8:c.1669C>T MANE Select	ENSP00000310520.7:p.Leu557Phe
ENST00000311895.7:c.1669C>T	ENSP00000310520.7:p.Leu557Phe
ENST00000389138.7:n.946C>T
NM_005236.2:c.1669C>T , LRG_463t1:c.1669C>T	NP_005227.1:p.Leu557Phe
XM_011522424.1:c.1807C>T	XP_011520726.1:p.Leu603Phe
XM_011522425.1:c.1126C>T	XP_011520727.1:p.Leu376Phe
XM_011522426.1:c.880C>T	XP_011520728.1:p.Leu294Phe
XM_011522427.1:c.319C>T	XP_011520729.1:p.Leu107Phe
XR_932805.1:n.1828C>T
XM_011522424.3:c.1807C>T	XP_011520726.1:p.Leu603Phe
XM_017023043.2:c.880C>T	XP_016878532.1:p.Leu294Phe
NM_005236.3:c.1669C>T MANE Select	NP_005227.1:p.Leu557Phe