Canonical Allele Identifier: CA394824545

Gene: ERCC4

Linked Data

• dbSNP Id: rs2141621249
• MyVariant Identifiers: chr16:g.14042054G>A (hg19) ; chr16:g.13948197G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948197G>A , CM000678.2:g.13948197G>A	GRCh38
NC_000016.9:g.14042054G>A , CM000678.1:g.14042054G>A	GRCh37
NC_000016.8:g.13949555G>A	NCBI36
NG_011442.1:g.33041G>A , LRG_463:g.33041G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2739G>A	ENSP00000507912.1:p.Met913Ile
ENST00000683962.1:c.*2295G>A	ENSP00000506854.1:n.*2295G>A
ENST00000311895.8:c.2601G>A MANE Select	ENSP00000310520.7:p.Met867Ile
ENST00000311895.7:c.2601G>A	ENSP00000310520.7:p.Met867Ile
ENST00000389138.7:n.1878G>A
NM_005236.2:c.2601G>A , LRG_463t1:c.2601G>A	NP_005227.1:p.Met867Ile
XM_011522424.1:c.2739G>A	XP_011520726.1:p.Met913Ile
XM_011522425.1:c.2058G>A	XP_011520727.1:p.Met686Ile
XM_011522426.1:c.1812G>A	XP_011520728.1:p.Met604Ile
XM_011522427.1:c.1251G>A	XP_011520729.1:p.Met417Ile
XR_932805.1:n.2760G>A
XM_011522424.3:c.2739G>A	XP_011520726.1:p.Met913Ile
XM_017023043.2:c.1812G>A	XP_016878532.1:p.Met604Ile
NM_005236.3:c.2601G>A MANE Select	NP_005227.1:p.Met867Ile