Canonical Allele Identifier: CA394823776

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14041890T>C (hg19) ; chr16:g.13948033T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948033T>C , CM000678.2:g.13948033T>C	GRCh38
NC_000016.9:g.14041890T>C , CM000678.1:g.14041890T>C	GRCh37
NC_000016.8:g.13949391T>C	NCBI36
NG_011442.1:g.32877T>C , LRG_463:g.32877T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682617.1:c.2575T>C	ENSP00000507912.1:p.Phe859Leu
ENST00000683962.1:c.*2131T>C	ENSP00000506854.1:n.*2131T>C
ENST00000311895.8:c.2437T>C MANE Select	ENSP00000310520.7:p.Phe813Leu
ENST00000311895.7:c.2437T>C	ENSP00000310520.7:p.Phe813Leu
ENST00000389138.7:n.1714T>C
NM_005236.2:c.2437T>C , LRG_463t1:c.2437T>C	NP_005227.1:p.Phe813Leu
XM_011522424.1:c.2575T>C	XP_011520726.1:p.Phe859Leu
XM_011522425.1:c.1894T>C	XP_011520727.1:p.Phe632Leu
XM_011522426.1:c.1648T>C	XP_011520728.1:p.Phe550Leu
XM_011522427.1:c.1087T>C	XP_011520729.1:p.Phe363Leu
XR_932805.1:n.2596T>C
XM_011522424.3:c.2575T>C	XP_011520726.1:p.Phe859Leu
XM_017023043.2:c.1648T>C	XP_016878532.1:p.Phe550Leu
NM_005236.3:c.2437T>C MANE Select	NP_005227.1:p.Phe813Leu