Canonical Allele Identifier: CA7910781

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 1159467
• ClinVar RCV Id: RCV001503215
• dbSNP Id: rs759042927
• ExAC: 16:14042072 C / T
• gnomAD v2: 16-14042072-C-T
• gnomAD v4: 16-13948215-C-T
• COSMIC: COSM967204
• MyVariant Identifiers: chr16:g.14042072C>T (hg19) ; chr16:g.13948215C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948215C>T , CM000678.2:g.13948215C>T	GRCh38
NC_000016.9:g.14042072C>T , CM000678.1:g.14042072C>T	GRCh37
NC_000016.8:g.13949573C>T	NCBI36
NG_011442.1:g.33059C>T , LRG_463:g.33059C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2757C>T	ENSP00000507912.1:p.Ile919=
ENST00000683962.1:c.*2313C>T	ENSP00000506854.1:n.*2313C>T
ENST00000311895.8:c.2619C>T MANE Select	ENSP00000310520.7:p.Ile873=
ENST00000311895.7:c.2619C>T	ENSP00000310520.7:p.Ile873=
ENST00000389138.7:n.1896C>T
NM_005236.2:c.2619C>T , LRG_463t1:c.2619C>T	NP_005227.1:p.Ile873=
XM_011522424.1:c.2757C>T	XP_011520726.1:p.Ile919=
XM_011522425.1:c.2076C>T	XP_011520727.1:p.Ile692=
XM_011522426.1:c.1830C>T	XP_011520728.1:p.Ile610=
XM_011522427.1:c.1269C>T	XP_011520729.1:p.Ile423=
XR_932805.1:n.2778C>T
XM_011522424.3:c.2757C>T	XP_011520726.1:p.Ile919=
XM_017023043.2:c.1830C>T	XP_016878532.1:p.Ile610=
NM_005236.3:c.2619C>T MANE Select	NP_005227.1:p.Ile873=