Canonical Allele Identifier: CA394823163

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 929560
• ClinVar RCV Id: RCV001194783
• dbSNP Id: rs1451008479
• gnomAD v2: 16-14041810-C-T
• gnomAD v4: 16-13947953-C-T
• MyVariant Identifiers: chr16:g.14041810C>T (hg19) ; chr16:g.13947953C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947953C>T , CM000678.2:g.13947953C>T	GRCh38
NC_000016.9:g.14041810C>T , CM000678.1:g.14041810C>T	GRCh37
NC_000016.8:g.13949311C>T	NCBI36
NG_011442.1:g.32797C>T , LRG_463:g.32797C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682617.1:c.2495C>T	ENSP00000507912.1:p.Ser832Phe
ENST00000683962.1:c.*2051C>T	ENSP00000506854.1:n.*2051C>T
ENST00000311895.8:c.2357C>T MANE Select	ENSP00000310520.7:p.Ser786Phe
ENST00000311895.7:c.2357C>T	ENSP00000310520.7:p.Ser786Phe
ENST00000389138.7:n.1634C>T
ENST00000462862.1:c.670C>T	ENSP00000461322.1:n.670C>T
NM_005236.2:c.2357C>T , LRG_463t1:c.2357C>T	NP_005227.1:p.Ser786Phe
XM_011522424.1:c.2495C>T	XP_011520726.1:p.Ser832Phe
XM_011522425.1:c.1814C>T	XP_011520727.1:p.Ser605Phe
XM_011522426.1:c.1568C>T	XP_011520728.1:p.Ser523Phe
XM_011522427.1:c.1007C>T	XP_011520729.1:p.Ser336Phe
XR_932805.1:n.2516C>T
XM_011522424.3:c.2495C>T	XP_011520726.1:p.Ser832Phe
XM_017023043.2:c.1568C>T	XP_016878532.1:p.Ser523Phe
NM_005236.3:c.2357C>T MANE Select	NP_005227.1:p.Ser786Phe