Canonical Allele Identifier: CA394812187

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029440C>T (hg19) ; chr16:g.13935583C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935583C>T , CM000678.2:g.13935583C>T	GRCh38
NC_000016.9:g.14029440C>T , CM000678.1:g.14029440C>T	GRCh37
NC_000016.8:g.13936941C>T	NCBI36
NG_011442.1:g.20427C>T , LRG_463:g.20427C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1729C>T
ENST00000682617.1:c.1789C>T	ENSP00000507912.1:p.Leu597Phe
ENST00000682826.1:c.*965C>T	ENSP00000507274.1:n.*965C>T
ENST00000682909.1:n.3691C>T
ENST00000683277.1:n.3296C>T
ENST00000683407.1:n.1659C>T
ENST00000683962.1:c.*1345C>T	ENSP00000506854.1:n.*1345C>T
ENST00000311895.8:c.1651C>T MANE Select	ENSP00000310520.7:p.Leu551Phe
ENST00000311895.7:c.1651C>T	ENSP00000310520.7:p.Leu551Phe
ENST00000389138.7:n.928C>T
NM_005236.2:c.1651C>T , LRG_463t1:c.1651C>T	NP_005227.1:p.Leu551Phe
XM_011522424.1:c.1789C>T	XP_011520726.1:p.Leu597Phe
XM_011522425.1:c.1108C>T	XP_011520727.1:p.Leu370Phe
XM_011522426.1:c.862C>T	XP_011520728.1:p.Leu288Phe
XM_011522427.1:c.301C>T	XP_011520729.1:p.Leu101Phe
XR_932805.1:n.1810C>T
XM_011522424.3:c.1789C>T	XP_011520726.1:p.Leu597Phe
XM_017023043.2:c.862C>T	XP_016878532.1:p.Leu288Phe
NM_005236.3:c.1651C>T MANE Select	NP_005227.1:p.Leu551Phe