Canonical Allele Identifier: CA7910716

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 2931754
• ClinVar RCV Id: RCV003792776
• dbSNP Id: rs778971103
• ExAC: 16:14041730 T / G
• gnomAD v2: 16-14041730-T-G
• gnomAD v4: 16-13947873-T-G
• MyVariant Identifiers: chr16:g.14041730T>G (hg19) ; chr16:g.13947873T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947873T>G , CM000678.2:g.13947873T>G	GRCh38
NC_000016.9:g.14041730T>G , CM000678.1:g.14041730T>G	GRCh37
NC_000016.8:g.13949231T>G	NCBI36
NG_011442.1:g.32717T>G , LRG_463:g.32717T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682617.1:c.2415T>G	ENSP00000507912.1:p.Ile805Met
ENST00000683962.1:c.*1971T>G	ENSP00000506854.1:n.*1971T>G
ENST00000311895.8:c.2277T>G MANE Select	ENSP00000310520.7:p.Ile759Met
ENST00000311895.7:c.2277T>G	ENSP00000310520.7:p.Ile759Met
ENST00000389138.7:n.1554T>G
ENST00000462862.1:c.590T>G	ENSP00000461322.1:n.590T>G
NM_005236.2:c.2277T>G , LRG_463t1:c.2277T>G	NP_005227.1:p.Ile759Met
XM_011522424.1:c.2415T>G	XP_011520726.1:p.Ile805Met
XM_011522425.1:c.1734T>G	XP_011520727.1:p.Ile578Met
XM_011522426.1:c.1488T>G	XP_011520728.1:p.Ile496Met
XM_011522427.1:c.927T>G	XP_011520729.1:p.Ile309Met
XR_932805.1:n.2436T>G
XM_011522424.3:c.2415T>G	XP_011520726.1:p.Ile805Met
XM_017023043.2:c.1488T>G	XP_016878532.1:p.Ile496Met
NM_005236.3:c.2277T>G MANE Select	NP_005227.1:p.Ile759Met