Canonical Allele Identifier: CA394821000

Gene: ERCC4

Linked Data

• dbSNP Id: rs1244349973
• gnomAD v2: 16-14041487-T-G
• gnomAD v3: 16-13947630-T-G
• gnomAD v4: 16-13947630-T-G
• MyVariant Identifiers: chr16:g.14041487T>G (hg19) ; chr16:g.13947630T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947630T>G , CM000678.2:g.13947630T>G	GRCh38
NC_000016.9:g.14041487T>G , CM000678.1:g.14041487T>G	GRCh37
NC_000016.8:g.13948988T>G	NCBI36
NG_011442.1:g.32474T>G , LRG_463:g.32474T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2172T>G	ENSP00000507912.1:p.Asn724Lys
ENST00000683962.1:c.*1728T>G	ENSP00000506854.1:n.*1728T>G
ENST00000311895.8:c.2034T>G MANE Select	ENSP00000310520.7:p.Asn678Lys
ENST00000311895.7:c.2034T>G	ENSP00000310520.7:p.Asn678Lys
ENST00000389138.7:n.1311T>G
ENST00000462862.1:c.347T>G	ENSP00000461322.1:n.347T>G
NM_005236.2:c.2034T>G , LRG_463t1:c.2034T>G	NP_005227.1:p.Asn678Lys
XM_011522424.1:c.2172T>G	XP_011520726.1:p.Asn724Lys
XM_011522425.1:c.1491T>G	XP_011520727.1:p.Asn497Lys
XM_011522426.1:c.1245T>G	XP_011520728.1:p.Asn415Lys
XM_011522427.1:c.684T>G	XP_011520729.1:p.Asn228Lys
XR_932805.1:n.2193T>G
XM_011522424.3:c.2172T>G	XP_011520726.1:p.Asn724Lys
XM_017023043.2:c.1245T>G	XP_016878532.1:p.Asn415Lys
NM_005236.3:c.2034T>G MANE Select	NP_005227.1:p.Asn678Lys