Canonical Allele Identifier: CA7910681

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 726488
• ClinVar RCV Id: RCV000900708
• dbSNP Id: rs777766206
• ExAC: 16:14041571 T / C
• gnomAD v2: 16-14041571-T-C
• gnomAD v3: 16-13947714-T-C
• gnomAD v4: 16-13947714-T-C
• MyVariant Identifiers: chr16:g.14041571T>C (hg19) ; chr16:g.13947714T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947714T>C , CM000678.2:g.13947714T>C	GRCh38
NC_000016.9:g.14041571T>C , CM000678.1:g.14041571T>C	GRCh37
NC_000016.8:g.13949072T>C	NCBI36
NG_011442.1:g.32558T>C , LRG_463:g.32558T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2256T>C	ENSP00000507912.1:p.Ile752=
ENST00000683962.1:c.*1812T>C	ENSP00000506854.1:n.*1812T>C
ENST00000311895.8:c.2118T>C MANE Select	ENSP00000310520.7:p.Ile706=
ENST00000311895.7:c.2118T>C	ENSP00000310520.7:p.Ile706=
ENST00000389138.7:n.1395T>C
ENST00000462862.1:c.431T>C	ENSP00000461322.1:n.431T>C
NM_005236.2:c.2118T>C , LRG_463t1:c.2118T>C	NP_005227.1:p.Ile706=
XM_011522424.1:c.2256T>C	XP_011520726.1:p.Ile752=
XM_011522425.1:c.1575T>C	XP_011520727.1:p.Ile525=
XM_011522426.1:c.1329T>C	XP_011520728.1:p.Ile443=
XM_011522427.1:c.768T>C	XP_011520729.1:p.Ile256=
XR_932805.1:n.2277T>C
XM_011522424.3:c.2256T>C	XP_011520726.1:p.Ile752=
XM_017023043.2:c.1329T>C	XP_016878532.1:p.Ile443=
NM_005236.3:c.2118T>C MANE Select	NP_005227.1:p.Ile706=