Canonical Allele Identifier: CA394822622

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14041684A>T (hg19) ; chr16:g.13947827A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947827A>T , CM000678.2:g.13947827A>T	GRCh38
NC_000016.9:g.14041684A>T , CM000678.1:g.14041684A>T	GRCh37
NC_000016.8:g.13949185A>T	NCBI36
NG_011442.1:g.32671A>T , LRG_463:g.32671A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682617.1:c.2369A>T	ENSP00000507912.1:p.Gln790Leu
ENST00000683962.1:c.*1925A>T	ENSP00000506854.1:n.*1925A>T
ENST00000311895.8:c.2231A>T MANE Select	ENSP00000310520.7:p.Gln744Leu
ENST00000311895.7:c.2231A>T	ENSP00000310520.7:p.Gln744Leu
ENST00000389138.7:n.1508A>T
ENST00000462862.1:c.544A>T	ENSP00000461322.1:n.544A>T
NM_005236.2:c.2231A>T , LRG_463t1:c.2231A>T	NP_005227.1:p.Gln744Leu
XM_011522424.1:c.2369A>T	XP_011520726.1:p.Gln790Leu
XM_011522425.1:c.1688A>T	XP_011520727.1:p.Gln563Leu
XM_011522426.1:c.1442A>T	XP_011520728.1:p.Gln481Leu
XM_011522427.1:c.881A>T	XP_011520729.1:p.Gln294Leu
XR_932805.1:n.2390A>T
XM_011522424.3:c.2369A>T	XP_011520726.1:p.Gln790Leu
XM_017023043.2:c.1442A>T	XP_016878532.1:p.Gln481Leu
NM_005236.3:c.2231A>T MANE Select	NP_005227.1:p.Gln744Leu