Canonical Allele Identifier: CA394821863

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 835496
• ClinVar RCV Id: RCV001036389
• dbSNP Id: rs2032542117
• MyVariant Identifiers: chr16:g.14041567A>T (hg19) ; chr16:g.13947710A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947710A>T , CM000678.2:g.13947710A>T	GRCh38
NC_000016.9:g.14041567A>T , CM000678.1:g.14041567A>T	GRCh37
NC_000016.8:g.13949068A>T	NCBI36
NG_011442.1:g.32554A>T , LRG_463:g.32554A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2252A>T	ENSP00000507912.1:p.Asp751Val
ENST00000683962.1:c.*1808A>T	ENSP00000506854.1:n.*1808A>T
ENST00000311895.8:c.2114A>T MANE Select	ENSP00000310520.7:p.Asp705Val
ENST00000311895.7:c.2114A>T	ENSP00000310520.7:p.Asp705Val
ENST00000389138.7:n.1391A>T
ENST00000462862.1:c.427A>T	ENSP00000461322.1:n.427A>T
NM_005236.2:c.2114A>T , LRG_463t1:c.2114A>T	NP_005227.1:p.Asp705Val
XM_011522424.1:c.2252A>T	XP_011520726.1:p.Asp751Val
XM_011522425.1:c.1571A>T	XP_011520727.1:p.Asp524Val
XM_011522426.1:c.1325A>T	XP_011520728.1:p.Asp442Val
XM_011522427.1:c.764A>T	XP_011520729.1:p.Asp255Val
XR_932805.1:n.2273A>T
XM_011522424.3:c.2252A>T	XP_011520726.1:p.Asp751Val
XM_017023043.2:c.1325A>T	XP_016878532.1:p.Asp442Val
NM_005236.3:c.2114A>T MANE Select	NP_005227.1:p.Asp705Val