Canonical Allele Identifier: CA394822382

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13947781-A-T
• MyVariant Identifiers: chr16:g.14041638A>T (hg19) ; chr16:g.13947781A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947781A>T , CM000678.2:g.13947781A>T	GRCh38
NC_000016.9:g.14041638A>T , CM000678.1:g.14041638A>T	GRCh37
NC_000016.8:g.13949139A>T	NCBI36
NG_011442.1:g.32625A>T , LRG_463:g.32625A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2323A>T	ENSP00000507912.1:p.Ile775Phe
ENST00000683962.1:c.*1879A>T	ENSP00000506854.1:n.*1879A>T
ENST00000311895.8:c.2185A>T MANE Select	ENSP00000310520.7:p.Ile729Phe
ENST00000311895.7:c.2185A>T	ENSP00000310520.7:p.Ile729Phe
ENST00000389138.7:n.1462A>T
ENST00000462862.1:c.498A>T	ENSP00000461322.1:n.498A>T
NM_005236.2:c.2185A>T , LRG_463t1:c.2185A>T	NP_005227.1:p.Ile729Phe
XM_011522424.1:c.2323A>T	XP_011520726.1:p.Ile775Phe
XM_011522425.1:c.1642A>T	XP_011520727.1:p.Ile548Phe
XM_011522426.1:c.1396A>T	XP_011520728.1:p.Ile466Phe
XM_011522427.1:c.835A>T	XP_011520729.1:p.Ile279Phe
XR_932805.1:n.2344A>T
XM_011522424.3:c.2323A>T	XP_011520726.1:p.Ile775Phe
XM_017023043.2:c.1396A>T	XP_016878532.1:p.Ile466Phe
NM_005236.3:c.2185A>T MANE Select	NP_005227.1:p.Ile729Phe