Canonical Allele Identifier: CA394823575

Gene: ERCC4

Linked Data

• dbSNP Id: rs2141620711
• COSMIC: COSM967201
• MyVariant Identifiers: chr16:g.14041864C>A (hg19) ; chr16:g.13948007C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948007C>A , CM000678.2:g.13948007C>A	GRCh38
NC_000016.9:g.14041864C>A , CM000678.1:g.14041864C>A	GRCh37
NC_000016.8:g.13949365C>A	NCBI36
NG_011442.1:g.32851C>A , LRG_463:g.32851C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682617.1:c.2549C>A	ENSP00000507912.1:p.Pro850His
ENST00000683962.1:c.*2105C>A	ENSP00000506854.1:n.*2105C>A
ENST00000311895.8:c.2411C>A MANE Select	ENSP00000310520.7:p.Pro804His
ENST00000311895.7:c.2411C>A	ENSP00000310520.7:p.Pro804His
ENST00000389138.7:n.1688C>A
NM_005236.2:c.2411C>A , LRG_463t1:c.2411C>A	NP_005227.1:p.Pro804His
XM_011522424.1:c.2549C>A	XP_011520726.1:p.Pro850His
XM_011522425.1:c.1868C>A	XP_011520727.1:p.Pro623His
XM_011522426.1:c.1622C>A	XP_011520728.1:p.Pro541His
XM_011522427.1:c.1061C>A	XP_011520729.1:p.Pro354His
XR_932805.1:n.2570C>A
XM_011522424.3:c.2549C>A	XP_011520726.1:p.Pro850His
XM_017023043.2:c.1622C>A	XP_016878532.1:p.Pro541His
NM_005236.3:c.2411C>A MANE Select	NP_005227.1:p.Pro804His