Canonical Allele Identifier: CA394818134

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 1930457
• ClinVar RCV Id: RCV002618914
• dbSNP Id: rs2032484990
• gnomAD v3: 16-13944815-C-T
• gnomAD v4: 16-13944815-C-T
• MyVariant Identifiers: chr16:g.14038672C>T (hg19) ; chr16:g.13944815C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13944815C>T , CM000678.2:g.13944815C>T	GRCh38
NC_000016.9:g.14038672C>T , CM000678.1:g.14038672C>T	GRCh37
NC_000016.8:g.13946173C>T	NCBI36
NG_011442.1:g.29659C>T , LRG_463:g.29659C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682617.1:c.2135C>T	ENSP00000507912.1:p.Ser712Phe
ENST00000683962.1:c.*1691C>T	ENSP00000506854.1:n.*1691C>T
ENST00000311895.8:c.1997C>T MANE Select	ENSP00000310520.7:p.Ser666Phe
ENST00000311895.7:c.1997C>T	ENSP00000310520.7:p.Ser666Phe
ENST00000389138.7:n.1274C>T
ENST00000462862.1:c.310C>T	ENSP00000461322.1:n.310C>T
NM_005236.2:c.1997C>T , LRG_463t1:c.1997C>T	NP_005227.1:p.Ser666Phe
XM_011522424.1:c.2135C>T	XP_011520726.1:p.Ser712Phe
XM_011522425.1:c.1454C>T	XP_011520727.1:p.Ser485Phe
XM_011522426.1:c.1208C>T	XP_011520728.1:p.Ser403Phe
XM_011522427.1:c.647C>T	XP_011520729.1:p.Ser216Phe
XR_932805.1:n.2156C>T
XM_011522424.3:c.2135C>T	XP_011520726.1:p.Ser712Phe
XM_017023043.2:c.1208C>T	XP_016878532.1:p.Ser403Phe
NM_005236.3:c.1997C>T MANE Select	NP_005227.1:p.Ser666Phe