Canonical Allele Identifier: CA158870

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 134136
• ClinVar RCV Id: RCV000120809 ; RCV001296332
• dbSNP Id: rs141790888
• gnomAD v2: 16-14041930-C-T
• gnomAD v3: 16-13948073-C-T
• gnomAD v4: 16-13948073-C-T
• MyVariant Identifiers: chr16:g.14041930C>T (hg19) ; chr16:g.13948073C>T (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948073C>T , CM000678.2:g.13948073C>T	GRCh38
NC_000016.9:g.14041930C>T , CM000678.1:g.14041930C>T	GRCh37
NC_000016.8:g.13949431C>T	NCBI36
NG_011442.1:g.32917C>T , LRG_463:g.32917C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2615C>T	ENSP00000507912.1:p.Ala872Val
ENST00000683962.1:c.*2171C>T	ENSP00000506854.1:n.*2171C>T
ENST00000311895.8:c.2477C>T MANE Select	ENSP00000310520.7:p.Ala826Val
ENST00000311895.7:c.2477C>T	ENSP00000310520.7:p.Ala826Val
ENST00000389138.7:n.1754C>T
NM_005236.2:c.2477C>T , LRG_463t1:c.2477C>T	NP_005227.1:p.Ala826Val
XM_011522424.1:c.2615C>T	XP_011520726.1:p.Ala872Val
XM_011522425.1:c.1934C>T	XP_011520727.1:p.Ala645Val
XM_011522426.1:c.1688C>T	XP_011520728.1:p.Ala563Val
XM_011522427.1:c.1127C>T	XP_011520729.1:p.Ala376Val
XR_932805.1:n.2636C>T
XM_011522424.3:c.2615C>T	XP_011520726.1:p.Ala872Val
XM_017023043.2:c.1688C>T	XP_016878532.1:p.Ala563Val
NM_005236.3:c.2477C>T MANE Select	NP_005227.1:p.Ala826Val