Canonical Allele Identifier: CA394822446

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14041649A>C (hg19) ; chr16:g.13947792A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947792A>C , CM000678.2:g.13947792A>C	GRCh38
NC_000016.9:g.14041649A>C , CM000678.1:g.14041649A>C	GRCh37
NC_000016.8:g.13949150A>C	NCBI36
NG_011442.1:g.32636A>C , LRG_463:g.32636A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2334A>C	ENSP00000507912.1:p.Leu778Phe
ENST00000683962.1:c.*1890A>C	ENSP00000506854.1:n.*1890A>C
ENST00000311895.8:c.2196A>C MANE Select	ENSP00000310520.7:p.Leu732Phe
ENST00000311895.7:c.2196A>C	ENSP00000310520.7:p.Leu732Phe
ENST00000389138.7:n.1473A>C
ENST00000462862.1:c.509A>C	ENSP00000461322.1:n.509A>C
NM_005236.2:c.2196A>C , LRG_463t1:c.2196A>C	NP_005227.1:p.Leu732Phe
XM_011522424.1:c.2334A>C	XP_011520726.1:p.Leu778Phe
XM_011522425.1:c.1653A>C	XP_011520727.1:p.Leu551Phe
XM_011522426.1:c.1407A>C	XP_011520728.1:p.Leu469Phe
XM_011522427.1:c.846A>C	XP_011520729.1:p.Leu282Phe
XR_932805.1:n.2355A>C
XM_011522424.3:c.2334A>C	XP_011520726.1:p.Leu778Phe
XM_017023043.2:c.1407A>C	XP_016878532.1:p.Leu469Phe
NM_005236.3:c.2196A>C MANE Select	NP_005227.1:p.Leu732Phe