Canonical Allele Identifier: CA394823374

Gene: ERCC4

Linked Data

• dbSNP Id: rs1354794475
• gnomAD v2: 16-14041843-G-A
• gnomAD v3: 16-13947986-G-A
• gnomAD v4: 16-13947986-G-A
• MyVariant Identifiers: chr16:g.14041843G>A (hg19) ; chr16:g.13947986G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947986G>A , CM000678.2:g.13947986G>A	GRCh38
NC_000016.9:g.14041843G>A , CM000678.1:g.14041843G>A	GRCh37
NC_000016.8:g.13949344G>A	NCBI36
NG_011442.1:g.32830G>A , LRG_463:g.32830G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2528G>A	ENSP00000507912.1:p.Arg843Lys
ENST00000683962.1:c.*2084G>A	ENSP00000506854.1:n.*2084G>A
ENST00000311895.8:c.2390G>A MANE Select	ENSP00000310520.7:p.Arg797Lys
ENST00000311895.7:c.2390G>A	ENSP00000310520.7:p.Arg797Lys
ENST00000389138.7:n.1667G>A
ENST00000462862.1:c.703G>A	ENSP00000461322.1:n.703G>A
NM_005236.2:c.2390G>A , LRG_463t1:c.2390G>A	NP_005227.1:p.Arg797Lys
XM_011522424.1:c.2528G>A	XP_011520726.1:p.Arg843Lys
XM_011522425.1:c.1847G>A	XP_011520727.1:p.Arg616Lys
XM_011522426.1:c.1601G>A	XP_011520728.1:p.Arg534Lys
XM_011522427.1:c.1040G>A	XP_011520729.1:p.Arg347Lys
XR_932805.1:n.2549G>A
XM_011522424.3:c.2528G>A	XP_011520726.1:p.Arg843Lys
XM_017023043.2:c.1601G>A	XP_016878532.1:p.Arg534Lys
NM_005236.3:c.2390G>A MANE Select	NP_005227.1:p.Arg797Lys