Canonical Allele Identifier: CA493690072

Gene: ERCC4

Linked Data

• dbSNP Id: rs1352441116
• gnomAD v2: 16-14041904-A-G
• gnomAD v4: 16-13948047-A-G
• MyVariant Identifiers: chr16:g.14041904A>G (hg19) ; chr16:g.13948047A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948047A>G , CM000678.2:g.13948047A>G	GRCh38
NC_000016.9:g.14041904A>G , CM000678.1:g.14041904A>G	GRCh37
NC_000016.8:g.13949405A>G	NCBI36
NG_011442.1:g.32891A>G , LRG_463:g.32891A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2589A>G	ENSP00000507912.1:p.Lys863=
ENST00000683962.1:c.*2145A>G	ENSP00000506854.1:n.*2145A>G
ENST00000311895.8:c.2451A>G MANE Select	ENSP00000310520.7:p.Lys817=
ENST00000311895.7:c.2451A>G	ENSP00000310520.7:p.Lys817=
ENST00000389138.7:n.1728A>G
NM_005236.2:c.2451A>G , LRG_463t1:c.2451A>G	NP_005227.1:p.Lys817=
XM_011522424.1:c.2589A>G	XP_011520726.1:p.Lys863=
XM_011522425.1:c.1908A>G	XP_011520727.1:p.Lys636=
XM_011522426.1:c.1662A>G	XP_011520728.1:p.Lys554=
XM_011522427.1:c.1101A>G	XP_011520729.1:p.Lys367=
XR_932805.1:n.2610A>G
XM_011522424.3:c.2589A>G	XP_011520726.1:p.Lys863=
XM_017023043.2:c.1662A>G	XP_016878532.1:p.Lys554=
NM_005236.3:c.2451A>G MANE Select	NP_005227.1:p.Lys817=