Canonical Allele Identifier: CA394822464

Gene: ERCC4

Linked Data

• dbSNP Id: rs372425414
• MyVariant Identifiers: chr16:g.14041652C>G (hg19) ; chr16:g.13947795C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947795C>G , CM000678.2:g.13947795C>G	GRCh38
NC_000016.9:g.14041652C>G , CM000678.1:g.14041652C>G	GRCh37
NC_000016.8:g.13949153C>G	NCBI36
NG_011442.1:g.32639C>G , LRG_463:g.32639C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682617.1:c.2337C>G	ENSP00000507912.1:p.Ile779Met
ENST00000683962.1:c.*1893C>G	ENSP00000506854.1:n.*1893C>G
ENST00000311895.8:c.2199C>G MANE Select	ENSP00000310520.7:p.Ile733Met
ENST00000311895.7:c.2199C>G	ENSP00000310520.7:p.Ile733Met
ENST00000389138.7:n.1476C>G
ENST00000462862.1:c.512C>G	ENSP00000461322.1:n.512C>G
NM_005236.2:c.2199C>G , LRG_463t1:c.2199C>G	NP_005227.1:p.Ile733Met
XM_011522424.1:c.2337C>G	XP_011520726.1:p.Ile779Met
XM_011522425.1:c.1656C>G	XP_011520727.1:p.Ile552Met
XM_011522426.1:c.1410C>G	XP_011520728.1:p.Ile470Met
XM_011522427.1:c.849C>G	XP_011520729.1:p.Ile283Met
XR_932805.1:n.2358C>G
XM_011522424.3:c.2337C>G	XP_011520726.1:p.Ile779Met
XM_017023043.2:c.1410C>G	XP_016878532.1:p.Ile470Met
NM_005236.3:c.2199C>G MANE Select	NP_005227.1:p.Ile733Met