Canonical Allele Identifier: CA394824625

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 1490671
• ClinVar RCV Id: RCV002003930
• dbSNP Id: rs759042927
• MyVariant Identifiers: chr16:g.14042072C>G (hg19) ; chr16:g.13948215C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2757C>G	ENSP00000507912.1:p.Ile919Met
ENST00000683962.1:c.*2313C>G	ENSP00000506854.1:n.*2313C>G
ENST00000311895.8:c.2619C>G MANE Select	ENSP00000310520.7:p.Ile873Met
ENST00000311895.7:c.2619C>G	ENSP00000310520.7:p.Ile873Met
ENST00000389138.7:n.1896C>G
NM_005236.2:c.2619C>G , LRG_463t1:c.2619C>G	NP_005227.1:p.Ile873Met
XM_011522424.1:c.2757C>G	XP_011520726.1:p.Ile919Met
XM_011522425.1:c.2076C>G	XP_011520727.1:p.Ile692Met
XM_011522426.1:c.1830C>G	XP_011520728.1:p.Ile610Met
XM_011522427.1:c.1269C>G	XP_011520729.1:p.Ile423Met
XR_932805.1:n.2778C>G
XM_011522424.3:c.2757C>G	XP_011520726.1:p.Ile919Met
XM_017023043.2:c.1830C>G	XP_016878532.1:p.Ile610Met
NM_005236.3:c.2619C>G MANE Select	NP_005227.1:p.Ile873Met