Canonical Allele Identifier: CA278485603

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 2940298
• ClinVar RCV Id: RCV003797656
• dbSNP Id: rs1003632156
• gnomAD v3: 16-13948015-C-A
• gnomAD v4: 16-13948015-C-A
• MyVariant Identifiers: chr16:g.14041872C>A (hg19) ; chr16:g.13948015C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948015C>A , CM000678.2:g.13948015C>A	GRCh38
NC_000016.9:g.14041872C>A , CM000678.1:g.14041872C>A	GRCh37
NC_000016.8:g.13949373C>A	NCBI36
NG_011442.1:g.32859C>A , LRG_463:g.32859C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682617.1:c.2557C>A	ENSP00000507912.1:p.His853Asn
ENST00000683962.1:c.*2113C>A	ENSP00000506854.1:n.*2113C>A
ENST00000311895.8:c.2419C>A MANE Select	ENSP00000310520.7:p.His807Asn
ENST00000311895.7:c.2419C>A	ENSP00000310520.7:p.His807Asn
ENST00000389138.7:n.1696C>A
NM_005236.2:c.2419C>A , LRG_463t1:c.2419C>A	NP_005227.1:p.His807Asn
XM_011522424.1:c.2557C>A	XP_011520726.1:p.His853Asn
XM_011522425.1:c.1876C>A	XP_011520727.1:p.His626Asn
XM_011522426.1:c.1630C>A	XP_011520728.1:p.His544Asn
XM_011522427.1:c.1069C>A	XP_011520729.1:p.His357Asn
XR_932805.1:n.2578C>A
XM_011522424.3:c.2557C>A	XP_011520726.1:p.His853Asn
XM_017023043.2:c.1630C>A	XP_016878532.1:p.His544Asn
NM_005236.3:c.2419C>A MANE Select	NP_005227.1:p.His807Asn