Canonical Allele Identifier: CA394823231

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 2948514
• ClinVar RCV Id: RCV003809288
• MyVariant Identifiers: chr16:g.14041822T>G (hg19) ; chr16:g.13947965T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947965T>G , CM000678.2:g.13947965T>G	GRCh38
NC_000016.9:g.14041822T>G , CM000678.1:g.14041822T>G	GRCh37
NC_000016.8:g.13949323T>G	NCBI36
NG_011442.1:g.32809T>G , LRG_463:g.32809T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2507T>G	ENSP00000507912.1:p.Leu836Arg
ENST00000683962.1:c.*2063T>G	ENSP00000506854.1:n.*2063T>G
ENST00000311895.8:c.2369T>G MANE Select	ENSP00000310520.7:p.Leu790Arg
ENST00000311895.7:c.2369T>G	ENSP00000310520.7:p.Leu790Arg
ENST00000389138.7:n.1646T>G
ENST00000462862.1:c.682T>G	ENSP00000461322.1:n.682T>G
NM_005236.2:c.2369T>G , LRG_463t1:c.2369T>G	NP_005227.1:p.Leu790Arg
XM_011522424.1:c.2507T>G	XP_011520726.1:p.Leu836Arg
XM_011522425.1:c.1826T>G	XP_011520727.1:p.Leu609Arg
XM_011522426.1:c.1580T>G	XP_011520728.1:p.Leu527Arg
XM_011522427.1:c.1019T>G	XP_011520729.1:p.Leu340Arg
XR_932805.1:n.2528T>G
XM_011522424.3:c.2507T>G	XP_011520726.1:p.Leu836Arg
XM_017023043.2:c.1580T>G	XP_016878532.1:p.Leu527Arg
NM_005236.3:c.2369T>G MANE Select	NP_005227.1:p.Leu790Arg