Canonical Allele Identifier: CA394823173

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14041813A>T (hg19) ; chr16:g.13947956A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947956A>T , CM000678.2:g.13947956A>T	GRCh38
NC_000016.9:g.14041813A>T , CM000678.1:g.14041813A>T	GRCh37
NC_000016.8:g.13949314A>T	NCBI36
NG_011442.1:g.32800A>T , LRG_463:g.32800A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2498A>T	ENSP00000507912.1:p.Lys833Ile
ENST00000683962.1:c.*2054A>T	ENSP00000506854.1:n.*2054A>T
ENST00000311895.8:c.2360A>T MANE Select	ENSP00000310520.7:p.Lys787Ile
ENST00000311895.7:c.2360A>T	ENSP00000310520.7:p.Lys787Ile
ENST00000389138.7:n.1637A>T
ENST00000462862.1:c.673A>T	ENSP00000461322.1:n.673A>T
NM_005236.2:c.2360A>T , LRG_463t1:c.2360A>T	NP_005227.1:p.Lys787Ile
XM_011522424.1:c.2498A>T	XP_011520726.1:p.Lys833Ile
XM_011522425.1:c.1817A>T	XP_011520727.1:p.Lys606Ile
XM_011522426.1:c.1571A>T	XP_011520728.1:p.Lys524Ile
XM_011522427.1:c.1010A>T	XP_011520729.1:p.Lys337Ile
XR_932805.1:n.2519A>T
XM_011522424.3:c.2498A>T	XP_011520726.1:p.Lys833Ile
XM_017023043.2:c.1571A>T	XP_016878532.1:p.Lys524Ile
NM_005236.3:c.2360A>T MANE Select	NP_005227.1:p.Lys787Ile