Canonical Allele Identifier: CA7910666

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 888105
• ClinVar RCV Id: RCV001121236
• dbSNP Id: rs149364215
• ExAC: 16:14041518 C / T
• gnomAD v2: 16-14041518-C-T
• gnomAD v3: 16-13947661-C-T
• gnomAD v4: 16-13947661-C-T
• COSMIC: COSM4058417
• MyVariant Identifiers: chr16:g.14041518C>T (hg19) ; chr16:g.13947661C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947661C>T , CM000678.2:g.13947661C>T	GRCh38
NC_000016.9:g.14041518C>T , CM000678.1:g.14041518C>T	GRCh37
NC_000016.8:g.13949019C>T	NCBI36
NG_011442.1:g.32505C>T , LRG_463:g.32505C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682617.1:c.2203C>T	ENSP00000507912.1:p.Arg735Cys
ENST00000683962.1:c.*1759C>T	ENSP00000506854.1:n.*1759C>T
ENST00000311895.8:c.2065C>T MANE Select	ENSP00000310520.7:p.Arg689Cys
ENST00000311895.7:c.2065C>T	ENSP00000310520.7:p.Arg689Cys
ENST00000389138.7:n.1342C>T
ENST00000462862.1:c.378C>T	ENSP00000461322.1:n.378C>T
NM_005236.2:c.2065C>T , LRG_463t1:c.2065C>T	NP_005227.1:p.Arg689Cys
XM_011522424.1:c.2203C>T	XP_011520726.1:p.Arg735Cys
XM_011522425.1:c.1522C>T	XP_011520727.1:p.Arg508Cys
XM_011522426.1:c.1276C>T	XP_011520728.1:p.Arg426Cys
XM_011522427.1:c.715C>T	XP_011520729.1:p.Arg239Cys
XR_932805.1:n.2224C>T
XM_011522424.3:c.2203C>T	XP_011520726.1:p.Arg735Cys
XM_017023043.2:c.1276C>T	XP_016878532.1:p.Arg426Cys
NM_005236.3:c.2065C>T MANE Select	NP_005227.1:p.Arg689Cys