Canonical Allele Identifier: CA394822726

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14041713C>G (hg19) ; chr16:g.13947856C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947856C>G , CM000678.2:g.13947856C>G	GRCh38
NC_000016.9:g.14041713C>G , CM000678.1:g.14041713C>G	GRCh37
NC_000016.8:g.13949214C>G	NCBI36
NG_011442.1:g.32700C>G , LRG_463:g.32700C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2398C>G	ENSP00000507912.1:p.Arg800Gly
ENST00000683962.1:c.*1954C>G	ENSP00000506854.1:n.*1954C>G
ENST00000311895.8:c.2260C>G MANE Select	ENSP00000310520.7:p.Arg754Gly
ENST00000311895.7:c.2260C>G	ENSP00000310520.7:p.Arg754Gly
ENST00000389138.7:n.1537C>G
ENST00000462862.1:c.573C>G	ENSP00000461322.1:n.573C>G
NM_005236.2:c.2260C>G , LRG_463t1:c.2260C>G	NP_005227.1:p.Arg754Gly
XM_011522424.1:c.2398C>G	XP_011520726.1:p.Arg800Gly
XM_011522425.1:c.1717C>G	XP_011520727.1:p.Arg573Gly
XM_011522426.1:c.1471C>G	XP_011520728.1:p.Arg491Gly
XM_011522427.1:c.910C>G	XP_011520729.1:p.Arg304Gly
XR_932805.1:n.2419C>G
XM_011522424.3:c.2398C>G	XP_011520726.1:p.Arg800Gly
XM_017023043.2:c.1471C>G	XP_016878532.1:p.Arg491Gly
NM_005236.3:c.2260C>G MANE Select	NP_005227.1:p.Arg754Gly