Canonical Allele Identifier: CA278485471

Gene: ERCC4

Linked Data

• dbSNP Id: rs12928650
• COSMIC: COSM3506077
• MyVariant Identifiers: chr16:g.14041756C>T (hg19) ; chr16:g.13947899C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947899C>T , CM000678.2:g.13947899C>T	GRCh38
NC_000016.9:g.14041756C>T , CM000678.1:g.14041756C>T	GRCh37
NC_000016.8:g.13949257C>T	NCBI36
NG_011442.1:g.32743C>T , LRG_463:g.32743C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682617.1:c.2441C>T	ENSP00000507912.1:p.Ser814Phe
ENST00000683962.1:c.*1997C>T	ENSP00000506854.1:n.*1997C>T
ENST00000311895.8:c.2303C>T MANE Select	ENSP00000310520.7:p.Ser768Phe
ENST00000311895.7:c.2303C>T	ENSP00000310520.7:p.Ser768Phe
ENST00000389138.7:n.1580C>T
ENST00000462862.1:c.616C>T	ENSP00000461322.1:n.616C>T
NM_005236.2:c.2303C>T , LRG_463t1:c.2303C>T	NP_005227.1:p.Ser768Phe
XM_011522424.1:c.2441C>T	XP_011520726.1:p.Ser814Phe
XM_011522425.1:c.1760C>T	XP_011520727.1:p.Ser587Phe
XM_011522426.1:c.1514C>T	XP_011520728.1:p.Ser505Phe
XM_011522427.1:c.953C>T	XP_011520729.1:p.Ser318Phe
XR_932805.1:n.2462C>T
XM_011522424.3:c.2441C>T	XP_011520726.1:p.Ser814Phe
XM_017023043.2:c.1514C>T	XP_016878532.1:p.Ser505Phe
NM_005236.3:c.2303C>T MANE Select	NP_005227.1:p.Ser768Phe