Canonical Allele Identifier: CA7910134

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 408562
• ClinVar RCV Id: RCV000473210 ; RCV002496767
• dbSNP Id: rs55761944
• ExAC: 16:14015921 G / A
• gnomAD v2: 16-14015921-G-A
• gnomAD v3: 16-13922064-G-A
• gnomAD v4: 16-13922064-G-A
• MyVariant Identifiers: chr16:g.14015921G>A (hg19) ; chr16:g.13922064G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13922064G>A , CM000678.2:g.13922064G>A	GRCh38
NC_000016.9:g.14015921G>A , CM000678.1:g.14015921G>A	GRCh37
NC_000016.8:g.13923422G>A	NCBI36
NG_011442.1:g.6908G>A , LRG_463:g.6908G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682552.1:n.229G>A
ENST00000682568.1:n.171G>A
ENST00000682617.1:c.241G>A	ENSP00000507912.1:p.Val81Ile
ENST00000682826.1:c.241G>A	ENSP00000507274.1:p.Val81Ile
ENST00000682909.1:n.250G>A
ENST00000683277.1:n.1886G>A
ENST00000683407.1:n.249G>A
ENST00000683962.1:c.241G>A	ENSP00000506854.1:p.Val81Ile
ENST00000311895.8:c.241G>A MANE Select	ENSP00000310520.7:p.Val81Ile
ENST00000311895.7:c.241G>A	ENSP00000310520.7:p.Val81Ile
ENST00000575156.5:c.241G>A	ENSP00000459933.1:p.Val81Ile
ENST00000576348.1:n.216G>A
NM_005236.2:c.241G>A , LRG_463t1:c.241G>A	NP_005227.1:p.Val81Ile
XM_011522424.1:c.241G>A	XP_011520726.1:p.Val81Ile
XR_932805.1:n.262G>A
XR_933098.1:n.82+4461C>T
XR_933099.1:n.82+4461C>T
XR_933100.1:n.82+4461C>T
XM_011522424.3:c.241G>A	XP_011520726.1:p.Val81Ile
XM_017023043.2:c.-697G>A	XP_016878532.1:n.-697G>A
NM_005236.3:c.241G>A MANE Select	NP_005227.1:p.Val81Ile