Canonical Allele Identifier: CA278486144

Gene: ERCC4

Linked Data

• dbSNP Id: rs990556541
• gnomAD v2: 16-14042217-G-A
• gnomAD v4: 16-13948360-G-A
• MyVariant Identifiers: chr16:g.14042217G>A (hg19) ; chr16:g.13948360G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948360G>A , CM000678.2:g.13948360G>A	GRCh38
NC_000016.9:g.14042217G>A , CM000678.1:g.14042217G>A	GRCh37
NC_000016.8:g.13949718G>A	NCBI36
NG_011442.1:g.33204G>A , LRG_463:g.33204G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.*13G>A	ENSP00000507912.1:n.*13G>A
ENST00000683962.1:c.*2458G>A	ENSP00000506854.1:n.*2458G>A
ENST00000311895.8:c.*13G>A MANE Select	ENSP00000310520.7:n.*13G>A
ENST00000311895.7:c.*13G>A	ENSP00000310520.7:n.*13G>A
ENST00000389138.7:n.2041G>A
NM_005236.2:c.*13G>A , LRG_463t1:c.*13G>A	NP_005227.1:n.*13G>A
XM_011522424.1:c.*13G>A	XP_011520726.1:n.*13G>A
XM_011522425.1:c.*13G>A	XP_011520727.1:n.*13G>A
XM_011522426.1:c.*13G>A	XP_011520728.1:n.*13G>A
XM_011522427.1:c.*13G>A	XP_011520729.1:n.*13G>A
XR_932805.1:n.2923G>A
XM_011522424.3:c.*13G>A	XP_011520726.1:n.*13G>A
XM_017023043.2:c.*13G>A	XP_016878532.1:n.*13G>A
NM_005236.3:c.*13G>A MANE Select	NP_005227.1:n.*13G>A