Canonical Allele Identifier: CA278485914

Gene: ERCC4

Linked Data

• dbSNP Id: rs763275769
• gnomAD v4: 16-13948212-C-T
• MyVariant Identifiers: chr16:g.14042069C>T (hg19) ; chr16:g.13948212C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948212C>T , CM000678.2:g.13948212C>T	GRCh38
NC_000016.9:g.14042069C>T , CM000678.1:g.14042069C>T	GRCh37
NC_000016.8:g.13949570C>T	NCBI36
NG_011442.1:g.33056C>T , LRG_463:g.33056C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2754C>T	ENSP00000507912.1:p.Asn918=
ENST00000683962.1:c.*2310C>T	ENSP00000506854.1:n.*2310C>T
ENST00000311895.8:c.2616C>T MANE Select	ENSP00000310520.7:p.Asn872=
ENST00000311895.7:c.2616C>T	ENSP00000310520.7:p.Asn872=
ENST00000389138.7:n.1893C>T
NM_005236.2:c.2616C>T , LRG_463t1:c.2616C>T	NP_005227.1:p.Asn872=
XM_011522424.1:c.2754C>T	XP_011520726.1:p.Asn918=
XM_011522425.1:c.2073C>T	XP_011520727.1:p.Asn691=
XM_011522426.1:c.1827C>T	XP_011520728.1:p.Asn609=
XM_011522427.1:c.1266C>T	XP_011520729.1:p.Asn422=
XR_932805.1:n.2775C>T
XM_011522424.3:c.2754C>T	XP_011520726.1:p.Asn918=
XM_017023043.2:c.1827C>T	XP_016878532.1:p.Asn609=
NM_005236.3:c.2616C>T MANE Select	NP_005227.1:p.Asn872=