Canonical Allele Identifier: CA394824532

Gene: ERCC4

Linked Data

• dbSNP Id: rs2141621236
• MyVariant Identifiers: chr16:g.14042049T>A (hg19) ; chr16:g.13948192T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948192T>A , CM000678.2:g.13948192T>A	GRCh38
NC_000016.9:g.14042049T>A , CM000678.1:g.14042049T>A	GRCh37
NC_000016.8:g.13949550T>A	NCBI36
NG_011442.1:g.33036T>A , LRG_463:g.33036T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2734T>A	ENSP00000507912.1:p.Leu912Met
ENST00000683962.1:c.*2290T>A	ENSP00000506854.1:n.*2290T>A
ENST00000311895.8:c.2596T>A MANE Select	ENSP00000310520.7:p.Leu866Met
ENST00000311895.7:c.2596T>A	ENSP00000310520.7:p.Leu866Met
ENST00000389138.7:n.1873T>A
NM_005236.2:c.2596T>A , LRG_463t1:c.2596T>A	NP_005227.1:p.Leu866Met
XM_011522424.1:c.2734T>A	XP_011520726.1:p.Leu912Met
XM_011522425.1:c.2053T>A	XP_011520727.1:p.Leu685Met
XM_011522426.1:c.1807T>A	XP_011520728.1:p.Leu603Met
XM_011522427.1:c.1246T>A	XP_011520729.1:p.Leu416Met
XR_932805.1:n.2755T>A
XM_011522424.3:c.2734T>A	XP_011520726.1:p.Leu912Met
XM_017023043.2:c.1807T>A	XP_016878532.1:p.Leu603Met
NM_005236.3:c.2596T>A MANE Select	NP_005227.1:p.Leu866Met