Canonical Allele Identifier: CA394822641

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13947830-G-C
• MyVariant Identifiers: chr16:g.14041687G>C (hg19) ; chr16:g.13947830G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947830G>C , CM000678.2:g.13947830G>C	GRCh38
NC_000016.9:g.14041687G>C , CM000678.1:g.14041687G>C	GRCh37
NC_000016.8:g.13949188G>C	NCBI36
NG_011442.1:g.32674G>C , LRG_463:g.32674G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682617.1:c.2372G>C	ENSP00000507912.1:p.Cys791Ser
ENST00000683962.1:c.*1928G>C	ENSP00000506854.1:n.*1928G>C
ENST00000311895.8:c.2234G>C MANE Select	ENSP00000310520.7:p.Cys745Ser
ENST00000311895.7:c.2234G>C	ENSP00000310520.7:p.Cys745Ser
ENST00000389138.7:n.1511G>C
ENST00000462862.1:c.547G>C	ENSP00000461322.1:n.547G>C
NM_005236.2:c.2234G>C , LRG_463t1:c.2234G>C	NP_005227.1:p.Cys745Ser
XM_011522424.1:c.2372G>C	XP_011520726.1:p.Cys791Ser
XM_011522425.1:c.1691G>C	XP_011520727.1:p.Cys564Ser
XM_011522426.1:c.1445G>C	XP_011520728.1:p.Cys482Ser
XM_011522427.1:c.884G>C	XP_011520729.1:p.Cys295Ser
XR_932805.1:n.2393G>C
XM_011522424.3:c.2372G>C	XP_011520726.1:p.Cys791Ser
XM_017023043.2:c.1445G>C	XP_016878532.1:p.Cys482Ser
NM_005236.3:c.2234G>C MANE Select	NP_005227.1:p.Cys745Ser