Canonical Allele Identifier: CA394823873

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 2048778
• ClinVar RCV Id: RCV002932054
• MyVariant Identifiers: chr16:g.14041902A>C (hg19) ; chr16:g.13948045A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948045A>C , CM000678.2:g.13948045A>C	GRCh38
NC_000016.9:g.14041902A>C , CM000678.1:g.14041902A>C	GRCh37
NC_000016.8:g.13949403A>C	NCBI36
NG_011442.1:g.32889A>C , LRG_463:g.32889A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2587A>C	ENSP00000507912.1:p.Lys863Gln
ENST00000683962.1:c.*2143A>C	ENSP00000506854.1:n.*2143A>C
ENST00000311895.8:c.2449A>C MANE Select	ENSP00000310520.7:p.Lys817Gln
ENST00000311895.7:c.2449A>C	ENSP00000310520.7:p.Lys817Gln
ENST00000389138.7:n.1726A>C
NM_005236.2:c.2449A>C , LRG_463t1:c.2449A>C	NP_005227.1:p.Lys817Gln
XM_011522424.1:c.2587A>C	XP_011520726.1:p.Lys863Gln
XM_011522425.1:c.1906A>C	XP_011520727.1:p.Lys636Gln
XM_011522426.1:c.1660A>C	XP_011520728.1:p.Lys554Gln
XM_011522427.1:c.1099A>C	XP_011520729.1:p.Lys367Gln
XR_932805.1:n.2608A>C
XM_011522424.3:c.2587A>C	XP_011520726.1:p.Lys863Gln
XM_017023043.2:c.1660A>C	XP_016878532.1:p.Lys554Gln
NM_005236.3:c.2449A>C MANE Select	NP_005227.1:p.Lys817Gln