Canonical Allele Identifier: CA394812052

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029421C>A (hg19) ; chr16:g.13935564C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935564C>A , CM000678.2:g.13935564C>A	GRCh38
NC_000016.9:g.14029421C>A , CM000678.1:g.14029421C>A	GRCh37
NC_000016.8:g.13936922C>A	NCBI36
NG_011442.1:g.20408C>A , LRG_463:g.20408C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682568.1:n.1710C>A
ENST00000682617.1:c.1770C>A	ENSP00000507912.1:p.Phe590Leu
ENST00000682826.1:c.*946C>A	ENSP00000507274.1:n.*946C>A
ENST00000682909.1:n.3672C>A
ENST00000683277.1:n.3277C>A
ENST00000683407.1:n.1640C>A
ENST00000683962.1:c.*1326C>A	ENSP00000506854.1:n.*1326C>A
ENST00000311895.8:c.1632C>A MANE Select	ENSP00000310520.7:p.Phe544Leu
ENST00000311895.7:c.1632C>A	ENSP00000310520.7:p.Phe544Leu
ENST00000389138.7:n.909C>A
NM_005236.2:c.1632C>A , LRG_463t1:c.1632C>A	NP_005227.1:p.Phe544Leu
XM_011522424.1:c.1770C>A	XP_011520726.1:p.Phe590Leu
XM_011522425.1:c.1089C>A	XP_011520727.1:p.Phe363Leu
XM_011522426.1:c.843C>A	XP_011520728.1:p.Phe281Leu
XM_011522427.1:c.282C>A	XP_011520729.1:p.Phe94Leu
XR_932805.1:n.1791C>A
XM_011522424.3:c.1770C>A	XP_011520726.1:p.Phe590Leu
XM_017023043.2:c.843C>A	XP_016878532.1:p.Phe281Leu
NM_005236.3:c.1632C>A MANE Select	NP_005227.1:p.Phe544Leu