Canonical Allele Identifier: CA394824003

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13948066-G-A
• MyVariant Identifiers: chr16:g.14041923G>A (hg19) ; chr16:g.13948066G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948066G>A , CM000678.2:g.13948066G>A	GRCh38
NC_000016.9:g.14041923G>A , CM000678.1:g.14041923G>A	GRCh37
NC_000016.8:g.13949424G>A	NCBI36
NG_011442.1:g.32910G>A , LRG_463:g.32910G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2608G>A	ENSP00000507912.1:p.Asp870Asn
ENST00000683962.1:c.*2164G>A	ENSP00000506854.1:n.*2164G>A
ENST00000311895.8:c.2470G>A MANE Select	ENSP00000310520.7:p.Asp824Asn
ENST00000311895.7:c.2470G>A	ENSP00000310520.7:p.Asp824Asn
ENST00000389138.7:n.1747G>A
NM_005236.2:c.2470G>A , LRG_463t1:c.2470G>A	NP_005227.1:p.Asp824Asn
XM_011522424.1:c.2608G>A	XP_011520726.1:p.Asp870Asn
XM_011522425.1:c.1927G>A	XP_011520727.1:p.Asp643Asn
XM_011522426.1:c.1681G>A	XP_011520728.1:p.Asp561Asn
XM_011522427.1:c.1120G>A	XP_011520729.1:p.Asp374Asn
XR_932805.1:n.2629G>A
XM_011522424.3:c.2608G>A	XP_011520726.1:p.Asp870Asn
XM_017023043.2:c.1681G>A	XP_016878532.1:p.Asp561Asn
NM_005236.3:c.2470G>A MANE Select	NP_005227.1:p.Asp824Asn