Canonical Allele Identifier: CA7910536

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 2165332
• ClinVar RCV Id: RCV003084315
• dbSNP Id: rs751782722
• ExAC: 16:14029576 C / T
• gnomAD v2: 16-14029576-C-T
• gnomAD v4: 16-13935719-C-T
• MyVariant Identifiers: chr16:g.14029576C>T (hg19) ; chr16:g.13935719C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935719C>T , CM000678.2:g.13935719C>T	GRCh38
NC_000016.9:g.14029576C>T , CM000678.1:g.14029576C>T	GRCh37
NC_000016.8:g.13937077C>T	NCBI36
NG_011442.1:g.20563C>T , LRG_463:g.20563C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1865C>T
ENST00000682617.1:c.1925C>T	ENSP00000507912.1:p.Ala642Val
ENST00000682826.1:c.*1101C>T	ENSP00000507274.1:n.*1101C>T
ENST00000682909.1:n.3827C>T
ENST00000683277.1:n.3432C>T
ENST00000683407.1:n.1795C>T
ENST00000683962.1:c.*1481C>T	ENSP00000506854.1:n.*1481C>T
ENST00000311895.8:c.1787C>T MANE Select	ENSP00000310520.7:p.Ala596Val
ENST00000311895.7:c.1787C>T	ENSP00000310520.7:p.Ala596Val
ENST00000389138.7:n.1064C>T
NM_005236.2:c.1787C>T , LRG_463t1:c.1787C>T	NP_005227.1:p.Ala596Val
XM_011522424.1:c.1925C>T	XP_011520726.1:p.Ala642Val
XM_011522425.1:c.1244C>T	XP_011520727.1:p.Ala415Val
XM_011522426.1:c.998C>T	XP_011520728.1:p.Ala333Val
XM_011522427.1:c.437C>T	XP_011520729.1:p.Ala146Val
XR_932805.1:n.1946C>T
XM_011522424.3:c.1925C>T	XP_011520726.1:p.Ala642Val
XM_017023043.2:c.998C>T	XP_016878532.1:p.Ala333Val
NM_005236.3:c.1787C>T MANE Select	NP_005227.1:p.Ala596Val