Canonical Allele Identifier: CA394823751

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14041888T>G (hg19) ; chr16:g.13948031T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948031T>G , CM000678.2:g.13948031T>G	GRCh38
NC_000016.9:g.14041888T>G , CM000678.1:g.14041888T>G	GRCh37
NC_000016.8:g.13949389T>G	NCBI36
NG_011442.1:g.32875T>G , LRG_463:g.32875T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682617.1:c.2573T>G	ENSP00000507912.1:p.Leu858Trp
ENST00000683962.1:c.*2129T>G	ENSP00000506854.1:n.*2129T>G
ENST00000311895.8:c.2435T>G MANE Select	ENSP00000310520.7:p.Leu812Trp
ENST00000311895.7:c.2435T>G	ENSP00000310520.7:p.Leu812Trp
ENST00000389138.7:n.1712T>G
NM_005236.2:c.2435T>G , LRG_463t1:c.2435T>G	NP_005227.1:p.Leu812Trp
XM_011522424.1:c.2573T>G	XP_011520726.1:p.Leu858Trp
XM_011522425.1:c.1892T>G	XP_011520727.1:p.Leu631Trp
XM_011522426.1:c.1646T>G	XP_011520728.1:p.Leu549Trp
XM_011522427.1:c.1085T>G	XP_011520729.1:p.Leu362Trp
XR_932805.1:n.2594T>G
XM_011522424.3:c.2573T>G	XP_011520726.1:p.Leu858Trp
XM_017023043.2:c.1646T>G	XP_016878532.1:p.Leu549Trp
NM_005236.3:c.2435T>G MANE Select	NP_005227.1:p.Leu812Trp