Canonical Allele Identifier: CA7910435

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 317811
• ClinVar RCV Id: RCV000321953 ; RCV000529282 ; RCV001820939 ; RCV003422265
• dbSNP Id: rs3136151
• ExAC: 16:14029073 G / A
• gnomAD v2: 16-14029073-G-A
• gnomAD v3: 16-13935216-G-A
• gnomAD v4: 16-13935216-G-A
• COSMIC: COSM3420765
• MyVariant Identifiers: chr16:g.14029073G>A (hg19) ; chr16:g.13935216G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935216G>A , CM000678.2:g.13935216G>A	GRCh38
NC_000016.9:g.14029073G>A , CM000678.1:g.14029073G>A	GRCh37
NC_000016.8:g.13936574G>A	NCBI36
NG_011442.1:g.20060G>A , LRG_463:g.20060G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1362G>A
ENST00000682617.1:c.1422G>A	ENSP00000507912.1:p.Ala474=
ENST00000682826.1:c.*598G>A	ENSP00000507274.1:n.*598G>A
ENST00000682909.1:n.3324G>A
ENST00000683277.1:n.2929G>A
ENST00000683407.1:n.1292G>A
ENST00000683962.1:c.*978G>A	ENSP00000506854.1:n.*978G>A
ENST00000311895.8:c.1284G>A MANE Select	ENSP00000310520.7:p.Ala428=
ENST00000311895.7:c.1284G>A	ENSP00000310520.7:p.Ala428=
ENST00000389138.7:n.561G>A
ENST00000573018.1:n.352G>A
NM_005236.2:c.1284G>A , LRG_463t1:c.1284G>A	NP_005227.1:p.Ala428=
XM_011522424.1:c.1422G>A	XP_011520726.1:p.Ala474=
XM_011522425.1:c.741G>A	XP_011520727.1:p.Ala247=
XM_011522426.1:c.495G>A	XP_011520728.1:p.Ala165=
XM_011522427.1:c.-67G>A	XP_011520729.1:n.-67G>A
XR_932805.1:n.1443G>A
XM_011522424.3:c.1422G>A	XP_011520726.1:p.Ala474=
XM_017023043.2:c.495G>A	XP_016878532.1:p.Ala165=
NM_005236.3:c.1284G>A MANE Select	NP_005227.1:p.Ala428=