Canonical Allele Identifier: CA394824536

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14042051G>C (hg19) ; chr16:g.13948194G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948194G>C , CM000678.2:g.13948194G>C	GRCh38
NC_000016.9:g.14042051G>C , CM000678.1:g.14042051G>C	GRCh37
NC_000016.8:g.13949552G>C	NCBI36
NG_011442.1:g.33038G>C , LRG_463:g.33038G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2736G>C	ENSP00000507912.1:p.Leu912Phe
ENST00000683962.1:c.*2292G>C	ENSP00000506854.1:n.*2292G>C
ENST00000311895.8:c.2598G>C MANE Select	ENSP00000310520.7:p.Leu866Phe
ENST00000311895.7:c.2598G>C	ENSP00000310520.7:p.Leu866Phe
ENST00000389138.7:n.1875G>C
NM_005236.2:c.2598G>C , LRG_463t1:c.2598G>C	NP_005227.1:p.Leu866Phe
XM_011522424.1:c.2736G>C	XP_011520726.1:p.Leu912Phe
XM_011522425.1:c.2055G>C	XP_011520727.1:p.Leu685Phe
XM_011522426.1:c.1809G>C	XP_011520728.1:p.Leu603Phe
XM_011522427.1:c.1248G>C	XP_011520729.1:p.Leu416Phe
XR_932805.1:n.2757G>C
XM_011522424.3:c.2736G>C	XP_011520726.1:p.Leu912Phe
XM_017023043.2:c.1809G>C	XP_016878532.1:p.Leu603Phe
NM_005236.3:c.2598G>C MANE Select	NP_005227.1:p.Leu866Phe