Canonical Allele Identifier: CA7910789

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 2198314
• ClinVar RCV Id: RCV002629294
• dbSNP Id: rs772294893
• ExAC: 16:14042107 C / T
• gnomAD v2: 16-14042107-C-T
• gnomAD v3: 16-13948250-C-T
• gnomAD v4: 16-13948250-C-T
• COSMIC: COSM967206
• MyVariant Identifiers: chr16:g.14042107C>T (hg19) ; chr16:g.13948250C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948250C>T , CM000678.2:g.13948250C>T	GRCh38
NC_000016.9:g.14042107C>T , CM000678.1:g.14042107C>T	GRCh37
NC_000016.8:g.13949608C>T	NCBI36
NG_011442.1:g.33094C>T , LRG_463:g.33094C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682617.1:c.2792C>T	ENSP00000507912.1:p.Thr931Met
ENST00000683962.1:c.*2348C>T	ENSP00000506854.1:n.*2348C>T
ENST00000311895.8:c.2654C>T MANE Select	ENSP00000310520.7:p.Thr885Met
ENST00000311895.7:c.2654C>T	ENSP00000310520.7:p.Thr885Met
ENST00000389138.7:n.1931C>T
NM_005236.2:c.2654C>T , LRG_463t1:c.2654C>T	NP_005227.1:p.Thr885Met
XM_011522424.1:c.2792C>T	XP_011520726.1:p.Thr931Met
XM_011522425.1:c.2111C>T	XP_011520727.1:p.Thr704Met
XM_011522426.1:c.1865C>T	XP_011520728.1:p.Thr622Met
XM_011522427.1:c.1304C>T	XP_011520729.1:p.Thr435Met
XR_932805.1:n.2813C>T
XM_011522424.3:c.2792C>T	XP_011520726.1:p.Thr931Met
XM_017023043.2:c.1865C>T	XP_016878532.1:p.Thr622Met
NM_005236.3:c.2654C>T MANE Select	NP_005227.1:p.Thr885Met