Canonical Allele Identifier: CA7910697

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 647874
• ClinVar RCV Id: RCV000802491 ; RCV001816865 ; RCV002477838 ; RCV002257965
• dbSNP Id: rs375860375
• ExAC: 16:14041639 T / C
• gnomAD v2: 16-14041639-T-C
• gnomAD v3: 16-13947782-T-C
• gnomAD v4: 16-13947782-T-C
• MyVariant Identifiers: chr16:g.14041639T>C (hg19) ; chr16:g.13947782T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947782T>C , CM000678.2:g.13947782T>C	GRCh38
NC_000016.9:g.14041639T>C , CM000678.1:g.14041639T>C	GRCh37
NC_000016.8:g.13949140T>C	NCBI36
NG_011442.1:g.32626T>C , LRG_463:g.32626T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2324T>C	ENSP00000507912.1:p.Ile775Thr
ENST00000683962.1:c.*1880T>C	ENSP00000506854.1:n.*1880T>C
ENST00000311895.8:c.2186T>C MANE Select	ENSP00000310520.7:p.Ile729Thr
ENST00000311895.7:c.2186T>C	ENSP00000310520.7:p.Ile729Thr
ENST00000389138.7:n.1463T>C
ENST00000462862.1:c.499T>C	ENSP00000461322.1:n.499T>C
NM_005236.2:c.2186T>C , LRG_463t1:c.2186T>C	NP_005227.1:p.Ile729Thr
XM_011522424.1:c.2324T>C	XP_011520726.1:p.Ile775Thr
XM_011522425.1:c.1643T>C	XP_011520727.1:p.Ile548Thr
XM_011522426.1:c.1397T>C	XP_011520728.1:p.Ile466Thr
XM_011522427.1:c.836T>C	XP_011520729.1:p.Ile279Thr
XR_932805.1:n.2345T>C
XM_011522424.3:c.2324T>C	XP_011520726.1:p.Ile775Thr
XM_017023043.2:c.1397T>C	XP_016878532.1:p.Ile466Thr
NM_005236.3:c.2186T>C MANE Select	NP_005227.1:p.Ile729Thr