Canonical Allele Identifier: CA7910510

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 317815
• ClinVar RCV Id: RCV000294613 ; RCV001069081 ; RCV002487399
• dbSNP Id: rs370896187
• ExAC: 16:14029465 G / A
• gnomAD v2: 16-14029465-G-A
• gnomAD v3: 16-13935608-G-A
• gnomAD v4: 16-13935608-G-A
• MyVariant Identifiers: chr16:g.14029465G>A (hg19) ; chr16:g.13935608G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935608G>A , CM000678.2:g.13935608G>A	GRCh38
NC_000016.9:g.14029465G>A , CM000678.1:g.14029465G>A	GRCh37
NC_000016.8:g.13936966G>A	NCBI36
NG_011442.1:g.20452G>A , LRG_463:g.20452G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1754G>A
ENST00000682617.1:c.1814G>A	ENSP00000507912.1:p.Gly605Asp
ENST00000682826.1:c.*990G>A	ENSP00000507274.1:n.*990G>A
ENST00000682909.1:n.3716G>A
ENST00000683277.1:n.3321G>A
ENST00000683407.1:n.1684G>A
ENST00000683962.1:c.*1370G>A	ENSP00000506854.1:n.*1370G>A
ENST00000311895.8:c.1676G>A MANE Select	ENSP00000310520.7:p.Gly559Asp
ENST00000311895.7:c.1676G>A	ENSP00000310520.7:p.Gly559Asp
ENST00000389138.7:n.953G>A
NM_005236.2:c.1676G>A , LRG_463t1:c.1676G>A	NP_005227.1:p.Gly559Asp
XM_011522424.1:c.1814G>A	XP_011520726.1:p.Gly605Asp
XM_011522425.1:c.1133G>A	XP_011520727.1:p.Gly378Asp
XM_011522426.1:c.887G>A	XP_011520728.1:p.Gly296Asp
XM_011522427.1:c.326G>A	XP_011520729.1:p.Gly109Asp
XR_932805.1:n.1835G>A
XM_011522424.3:c.1814G>A	XP_011520726.1:p.Gly605Asp
XM_017023043.2:c.887G>A	XP_016878532.1:p.Gly296Asp
NM_005236.3:c.1676G>A MANE Select	NP_005227.1:p.Gly559Asp