Canonical Allele Identifier: CA394823276

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 2067544
• ClinVar RCV Id: RCV002966504
• dbSNP Id: rs1200828246
• gnomAD v4: 16-13947973-C-G
• MyVariant Identifiers: chr16:g.14041830C>G (hg19) ; chr16:g.13947973C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947973C>G , CM000678.2:g.13947973C>G	GRCh38
NC_000016.9:g.14041830C>G , CM000678.1:g.14041830C>G	GRCh37
NC_000016.8:g.13949331C>G	NCBI36
NG_011442.1:g.32817C>G , LRG_463:g.32817C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682617.1:c.2515C>G	ENSP00000507912.1:p.Leu839Val
ENST00000683962.1:c.*2071C>G	ENSP00000506854.1:n.*2071C>G
ENST00000311895.8:c.2377C>G MANE Select	ENSP00000310520.7:p.Leu793Val
ENST00000311895.7:c.2377C>G	ENSP00000310520.7:p.Leu793Val
ENST00000389138.7:n.1654C>G
ENST00000462862.1:c.690C>G	ENSP00000461322.1:n.690C>G
NM_005236.2:c.2377C>G , LRG_463t1:c.2377C>G	NP_005227.1:p.Leu793Val
XM_011522424.1:c.2515C>G	XP_011520726.1:p.Leu839Val
XM_011522425.1:c.1834C>G	XP_011520727.1:p.Leu612Val
XM_011522426.1:c.1588C>G	XP_011520728.1:p.Leu530Val
XM_011522427.1:c.1027C>G	XP_011520729.1:p.Leu343Val
XR_932805.1:n.2536C>G
XM_011522424.3:c.2515C>G	XP_011520726.1:p.Leu839Val
XM_017023043.2:c.1588C>G	XP_016878532.1:p.Leu530Val
NM_005236.3:c.2377C>G MANE Select	NP_005227.1:p.Leu793Val