Canonical Allele Identifier: CA394824440

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14042007T>A (hg19) ; chr16:g.13948150T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948150T>A , CM000678.2:g.13948150T>A	GRCh38
NC_000016.9:g.14042007T>A , CM000678.1:g.14042007T>A	GRCh37
NC_000016.8:g.13949508T>A	NCBI36
NG_011442.1:g.32994T>A , LRG_463:g.32994T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2692T>A	ENSP00000507912.1:p.Leu898Met
ENST00000683962.1:c.*2248T>A	ENSP00000506854.1:n.*2248T>A
ENST00000311895.8:c.2554T>A MANE Select	ENSP00000310520.7:p.Leu852Met
ENST00000311895.7:c.2554T>A	ENSP00000310520.7:p.Leu852Met
ENST00000389138.7:n.1831T>A
NM_005236.2:c.2554T>A , LRG_463t1:c.2554T>A	NP_005227.1:p.Leu852Met
XM_011522424.1:c.2692T>A	XP_011520726.1:p.Leu898Met
XM_011522425.1:c.2011T>A	XP_011520727.1:p.Leu671Met
XM_011522426.1:c.1765T>A	XP_011520728.1:p.Leu589Met
XM_011522427.1:c.1204T>A	XP_011520729.1:p.Leu402Met
XR_932805.1:n.2713T>A
XM_011522424.3:c.2692T>A	XP_011520726.1:p.Leu898Met
XM_017023043.2:c.1765T>A	XP_016878532.1:p.Leu589Met
NM_005236.3:c.2554T>A MANE Select	NP_005227.1:p.Leu852Met