Canonical Allele Identifier: CA394823890

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14041905C>A (hg19) ; chr16:g.13948048C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948048C>A , CM000678.2:g.13948048C>A	GRCh38
NC_000016.9:g.14041905C>A , CM000678.1:g.14041905C>A	GRCh37
NC_000016.8:g.13949406C>A	NCBI36
NG_011442.1:g.32892C>A , LRG_463:g.32892C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682617.1:c.2590C>A	ENSP00000507912.1:p.Gln864Lys
ENST00000683962.1:c.*2146C>A	ENSP00000506854.1:n.*2146C>A
ENST00000311895.8:c.2452C>A MANE Select	ENSP00000310520.7:p.Gln818Lys
ENST00000311895.7:c.2452C>A	ENSP00000310520.7:p.Gln818Lys
ENST00000389138.7:n.1729C>A
NM_005236.2:c.2452C>A , LRG_463t1:c.2452C>A	NP_005227.1:p.Gln818Lys
XM_011522424.1:c.2590C>A	XP_011520726.1:p.Gln864Lys
XM_011522425.1:c.1909C>A	XP_011520727.1:p.Gln637Lys
XM_011522426.1:c.1663C>A	XP_011520728.1:p.Gln555Lys
XM_011522427.1:c.1102C>A	XP_011520729.1:p.Gln368Lys
XR_932805.1:n.2611C>A
XM_011522424.3:c.2590C>A	XP_011520726.1:p.Gln864Lys
XM_017023043.2:c.1663C>A	XP_016878532.1:p.Gln555Lys
NM_005236.3:c.2452C>A MANE Select	NP_005227.1:p.Gln818Lys