Canonical Allele Identifier: CA7910776

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 645946
• ClinVar RCV Id: RCV000800130 ; RCV002487687 ; RCV003144614
• dbSNP Id: rs368064765
• ExAC: 16:14042056 A / C
• gnomAD v2: 16-14042056-A-C
• gnomAD v3: 16-13948199-A-C
• gnomAD v4: 16-13948199-A-C
• MyVariant Identifiers: chr16:g.14042056A>C (hg19) ; chr16:g.13948199A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948199A>C , CM000678.2:g.13948199A>C	GRCh38
NC_000016.9:g.14042056A>C , CM000678.1:g.14042056A>C	GRCh37
NC_000016.8:g.13949557A>C	NCBI36
NG_011442.1:g.33043A>C , LRG_463:g.33043A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2741A>C	ENSP00000507912.1:p.His914Pro
ENST00000683962.1:c.*2297A>C	ENSP00000506854.1:n.*2297A>C
ENST00000311895.8:c.2603A>C MANE Select	ENSP00000310520.7:p.His868Pro
ENST00000311895.7:c.2603A>C	ENSP00000310520.7:p.His868Pro
ENST00000389138.7:n.1880A>C
NM_005236.2:c.2603A>C , LRG_463t1:c.2603A>C	NP_005227.1:p.His868Pro
XM_011522424.1:c.2741A>C	XP_011520726.1:p.His914Pro
XM_011522425.1:c.2060A>C	XP_011520727.1:p.His687Pro
XM_011522426.1:c.1814A>C	XP_011520728.1:p.His605Pro
XM_011522427.1:c.1253A>C	XP_011520729.1:p.His418Pro
XR_932805.1:n.2762A>C
XM_011522424.3:c.2741A>C	XP_011520726.1:p.His914Pro
XM_017023043.2:c.1814A>C	XP_016878532.1:p.His605Pro
NM_005236.3:c.2603A>C MANE Select	NP_005227.1:p.His868Pro