Canonical Allele Identifier: CA278472140

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 886832
• ClinVar RCV Id: RCV001119238 ; RCV002556538
• dbSNP Id: rs374556359
• gnomAD v2: 16-14029529-T-G
• gnomAD v3: 16-13935672-T-G
• gnomAD v4: 16-13935672-T-G
• MyVariant Identifiers: chr16:g.14029529T>G (hg19) ; chr16:g.13935672T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935672T>G , CM000678.2:g.13935672T>G	GRCh38
NC_000016.9:g.14029529T>G , CM000678.1:g.14029529T>G	GRCh37
NC_000016.8:g.13937030T>G	NCBI36
NG_011442.1:g.20516T>G , LRG_463:g.20516T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682568.1:n.1818T>G
ENST00000682617.1:c.1878T>G	ENSP00000507912.1:p.Leu626=
ENST00000682826.1:c.*1054T>G	ENSP00000507274.1:n.*1054T>G
ENST00000682909.1:n.3780T>G
ENST00000683277.1:n.3385T>G
ENST00000683407.1:n.1748T>G
ENST00000683962.1:c.*1434T>G	ENSP00000506854.1:n.*1434T>G
ENST00000311895.8:c.1740T>G MANE Select	ENSP00000310520.7:p.Leu580=
ENST00000311895.7:c.1740T>G	ENSP00000310520.7:p.Leu580=
ENST00000389138.7:n.1017T>G
NM_005236.2:c.1740T>G , LRG_463t1:c.1740T>G	NP_005227.1:p.Leu580=
XM_011522424.1:c.1878T>G	XP_011520726.1:p.Leu626=
XM_011522425.1:c.1197T>G	XP_011520727.1:p.Leu399=
XM_011522426.1:c.951T>G	XP_011520728.1:p.Leu317=
XM_011522427.1:c.390T>G	XP_011520729.1:p.Leu130=
XR_932805.1:n.1899T>G
XM_011522424.3:c.1878T>G	XP_011520726.1:p.Leu626=
XM_017023043.2:c.951T>G	XP_016878532.1:p.Leu317=
NM_005236.3:c.1740T>G MANE Select	NP_005227.1:p.Leu580=