Canonical Allele Identifier: CA7910515

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 2164438
• ClinVar RCV Id: RCV003088029
• dbSNP Id: rs553999029
• ExAC: 16:14029478 C / G
• gnomAD v2: 16-14029478-C-G
• gnomAD v3: 16-13935621-C-G
• gnomAD v4: 16-13935621-C-G
• MyVariant Identifiers: chr16:g.14029478C>G (hg19) ; chr16:g.13935621C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935621C>G , CM000678.2:g.13935621C>G	GRCh38
NC_000016.9:g.14029478C>G , CM000678.1:g.14029478C>G	GRCh37
NC_000016.8:g.13936979C>G	NCBI36
NG_011442.1:g.20465C>G , LRG_463:g.20465C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1767C>G
ENST00000682617.1:c.1827C>G	ENSP00000507912.1:p.Pro609=
ENST00000682826.1:c.*1003C>G	ENSP00000507274.1:n.*1003C>G
ENST00000682909.1:n.3729C>G
ENST00000683277.1:n.3334C>G
ENST00000683407.1:n.1697C>G
ENST00000683962.1:c.*1383C>G	ENSP00000506854.1:n.*1383C>G
ENST00000311895.8:c.1689C>G MANE Select	ENSP00000310520.7:p.Pro563=
ENST00000311895.7:c.1689C>G	ENSP00000310520.7:p.Pro563=
ENST00000389138.7:n.966C>G
NM_005236.2:c.1689C>G , LRG_463t1:c.1689C>G	NP_005227.1:p.Pro563=
XM_011522424.1:c.1827C>G	XP_011520726.1:p.Pro609=
XM_011522425.1:c.1146C>G	XP_011520727.1:p.Pro382=
XM_011522426.1:c.900C>G	XP_011520728.1:p.Pro300=
XM_011522427.1:c.339C>G	XP_011520729.1:p.Pro113=
XR_932805.1:n.1848C>G
XM_011522424.3:c.1827C>G	XP_011520726.1:p.Pro609=
XM_017023043.2:c.900C>G	XP_016878532.1:p.Pro300=
NM_005236.3:c.1689C>G MANE Select	NP_005227.1:p.Pro563=