Canonical Allele Identifier: CA394803100

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14022060T>G (hg19) ; chr16:g.13928203T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13928203T>G , CM000678.2:g.13928203T>G	GRCh38
NC_000016.9:g.14022060T>G , CM000678.1:g.14022060T>G	GRCh37
NC_000016.8:g.13929561T>G	NCBI36
NG_011442.1:g.13047T>G , LRG_463:g.13047T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682552.1:n.748T>G
ENST00000682568.1:n.690T>G
ENST00000682617.1:c.898T>G	ENSP00000507912.1:p.Leu300Val
ENST00000682826.1:c.760T>G	ENSP00000507274.1:p.Leu254Val
ENST00000682909.1:n.2800T>G
ENST00000683277.1:n.2405T>G
ENST00000683407.1:n.768T>G
ENST00000683962.1:c.*454T>G	ENSP00000506854.1:n.*454T>G
ENST00000311895.8:c.760T>G MANE Select	ENSP00000310520.7:p.Leu254Val
ENST00000311895.7:c.760T>G	ENSP00000310520.7:p.Leu254Val
ENST00000574194.1:c.287T>G
ENST00000574781.1:n.437T>G
ENST00000575156.5:c.760T>G	ENSP00000459933.1:p.Leu254Val
NM_005236.2:c.760T>G , LRG_463t1:c.760T>G	NP_005227.1:p.Leu254Val
XM_011522424.1:c.898T>G	XP_011520726.1:p.Leu300Val
XM_011522425.1:c.217T>G	XP_011520727.1:p.Leu73Val
XR_932805.1:n.919T>G
XM_011522424.3:c.898T>G	XP_011520726.1:p.Leu300Val
XM_017023043.2:c.-178T>G	XP_016878532.1:n.-178T>G
NM_005236.3:c.760T>G MANE Select	NP_005227.1:p.Leu254Val