Canonical Allele Identifier: CA7910701

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 317819
• ClinVar RCV Id: RCV000407678
• dbSNP Id: rs372425414
• ExAC: 16:14041652 C / T
• gnomAD v2: 16-14041652-C-T
• gnomAD v3: 16-13947795-C-T
• gnomAD v4: 16-13947795-C-T
• MyVariant Identifiers: chr16:g.14041652C>T (hg19) ; chr16:g.13947795C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947795C>T , CM000678.2:g.13947795C>T	GRCh38
NC_000016.9:g.14041652C>T , CM000678.1:g.14041652C>T	GRCh37
NC_000016.8:g.13949153C>T	NCBI36
NG_011442.1:g.32639C>T , LRG_463:g.32639C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682617.1:c.2337C>T	ENSP00000507912.1:p.Ile779=
ENST00000683962.1:c.*1893C>T	ENSP00000506854.1:n.*1893C>T
ENST00000311895.8:c.2199C>T MANE Select	ENSP00000310520.7:p.Ile733=
ENST00000311895.7:c.2199C>T	ENSP00000310520.7:p.Ile733=
ENST00000389138.7:n.1476C>T
ENST00000462862.1:c.512C>T	ENSP00000461322.1:n.512C>T
NM_005236.2:c.2199C>T , LRG_463t1:c.2199C>T	NP_005227.1:p.Ile733=
XM_011522424.1:c.2337C>T	XP_011520726.1:p.Ile779=
XM_011522425.1:c.1656C>T	XP_011520727.1:p.Ile552=
XM_011522426.1:c.1410C>T	XP_011520728.1:p.Ile470=
XM_011522427.1:c.849C>T	XP_011520729.1:p.Ile283=
XR_932805.1:n.2358C>T
XM_011522424.3:c.2337C>T	XP_011520726.1:p.Ile779=
XM_017023043.2:c.1410C>T	XP_016878532.1:p.Ile470=
NM_005236.3:c.2199C>T MANE Select	NP_005227.1:p.Ile733=