Canonical Allele Identifier: CA7910745

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 240123
• ClinVar RCV Id: RCV000229024 ; RCV000324572 ; RCV003919964
• dbSNP Id: rs2020953
• ExAC: 16:14041916 A / G
• gnomAD v2: 16-14041916-A-G
• gnomAD v3: 16-13948059-A-G
• gnomAD v4: 16-13948059-A-G
• MyVariant Identifiers: chr16:g.14041916A>G (hg19) ; chr16:g.13948059A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948059A>G , CM000678.2:g.13948059A>G	GRCh38
NC_000016.9:g.14041916A>G , CM000678.1:g.14041916A>G	GRCh37
NC_000016.8:g.13949417A>G	NCBI36
NG_011442.1:g.32903A>G , LRG_463:g.32903A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682617.1:c.2601A>G	ENSP00000507912.1:p.Pro867=
ENST00000683962.1:c.*2157A>G	ENSP00000506854.1:n.*2157A>G
ENST00000311895.8:c.2463A>G MANE Select	ENSP00000310520.7:p.Pro821=
ENST00000311895.7:c.2463A>G	ENSP00000310520.7:p.Pro821=
ENST00000389138.7:n.1740A>G
NM_005236.2:c.2463A>G , LRG_463t1:c.2463A>G	NP_005227.1:p.Pro821=
XM_011522424.1:c.2601A>G	XP_011520726.1:p.Pro867=
XM_011522425.1:c.1920A>G	XP_011520727.1:p.Pro640=
XM_011522426.1:c.1674A>G	XP_011520728.1:p.Pro558=
XM_011522427.1:c.1113A>G	XP_011520729.1:p.Pro371=
XR_932805.1:n.2622A>G
XM_011522424.3:c.2601A>G	XP_011520726.1:p.Pro867=
XM_017023043.2:c.1674A>G	XP_016878532.1:p.Pro558=
NM_005236.3:c.2463A>G MANE Select	NP_005227.1:p.Pro821=