Canonical Allele Identifier: CA394824013

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 2929148
• ClinVar RCV Id: RCV003781874
• MyVariant Identifiers: chr16:g.14041924A>T (hg19) ; chr16:g.13948067A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948067A>T , CM000678.2:g.13948067A>T	GRCh38
NC_000016.9:g.14041924A>T , CM000678.1:g.14041924A>T	GRCh37
NC_000016.8:g.13949425A>T	NCBI36
NG_011442.1:g.32911A>T , LRG_463:g.32911A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2609A>T	ENSP00000507912.1:p.Asp870Val
ENST00000683962.1:c.*2165A>T	ENSP00000506854.1:n.*2165A>T
ENST00000311895.8:c.2471A>T MANE Select	ENSP00000310520.7:p.Asp824Val
ENST00000311895.7:c.2471A>T	ENSP00000310520.7:p.Asp824Val
ENST00000389138.7:n.1748A>T
NM_005236.2:c.2471A>T , LRG_463t1:c.2471A>T	NP_005227.1:p.Asp824Val
XM_011522424.1:c.2609A>T	XP_011520726.1:p.Asp870Val
XM_011522425.1:c.1928A>T	XP_011520727.1:p.Asp643Val
XM_011522426.1:c.1682A>T	XP_011520728.1:p.Asp561Val
XM_011522427.1:c.1121A>T	XP_011520729.1:p.Asp374Val
XR_932805.1:n.2630A>T
XM_011522424.3:c.2609A>T	XP_011520726.1:p.Asp870Val
XM_017023043.2:c.1682A>T	XP_016878532.1:p.Asp561Val
NM_005236.3:c.2471A>T MANE Select	NP_005227.1:p.Asp824Val