Canonical Allele Identifier: CA394824420

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14041998C>A (hg19) ; chr16:g.13948141C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948141C>A , CM000678.2:g.13948141C>A	GRCh38
NC_000016.9:g.14041998C>A , CM000678.1:g.14041998C>A	GRCh37
NC_000016.8:g.13949499C>A	NCBI36
NG_011442.1:g.32985C>A , LRG_463:g.32985C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2683C>A	ENSP00000507912.1:p.Gln895Lys
ENST00000683962.1:c.*2239C>A	ENSP00000506854.1:n.*2239C>A
ENST00000311895.8:c.2545C>A MANE Select	ENSP00000310520.7:p.Gln849Lys
ENST00000311895.7:c.2545C>A	ENSP00000310520.7:p.Gln849Lys
ENST00000389138.7:n.1822C>A
NM_005236.2:c.2545C>A , LRG_463t1:c.2545C>A	NP_005227.1:p.Gln849Lys
XM_011522424.1:c.2683C>A	XP_011520726.1:p.Gln895Lys
XM_011522425.1:c.2002C>A	XP_011520727.1:p.Gln668Lys
XM_011522426.1:c.1756C>A	XP_011520728.1:p.Gln586Lys
XM_011522427.1:c.1195C>A	XP_011520729.1:p.Gln399Lys
XR_932805.1:n.2704C>A
XM_011522424.3:c.2683C>A	XP_011520726.1:p.Gln895Lys
XM_017023043.2:c.1756C>A	XP_016878532.1:p.Gln586Lys
NM_005236.3:c.2545C>A MANE Select	NP_005227.1:p.Gln849Lys