Canonical Allele Identifier: CA278486201

Gene: ERCC4

Linked Data

• dbSNP Id: rs1053104762
• gnomAD v4: 16-13948437-A-G
• MyVariant Identifiers: chr16:g.14042294A>G (hg19) ; chr16:g.13948437A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948437A>G , CM000678.2:g.13948437A>G	GRCh38
NC_000016.9:g.14042294A>G , CM000678.1:g.14042294A>G	GRCh37
NC_000016.8:g.13949795A>G	NCBI36
NG_011442.1:g.33281A>G , LRG_463:g.33281A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.*90A>G	ENSP00000507912.1:n.*90A>G
ENST00000683962.1:c.*2535A>G	ENSP00000506854.1:n.*2535A>G
ENST00000311895.8:c.*90A>G MANE Select	ENSP00000310520.7:n.*90A>G
ENST00000311895.7:c.*90A>G	ENSP00000310520.7:n.*90A>G
NM_005236.2:c.*90A>G , LRG_463t1:c.*90A>G	NP_005227.1:n.*90A>G
XM_011522424.1:c.*90A>G	XP_011520726.1:n.*90A>G
XM_011522425.1:c.*90A>G	XP_011520727.1:n.*90A>G
XM_011522426.1:c.*90A>G	XP_011520728.1:n.*90A>G
XM_011522427.1:c.*90A>G	XP_011520729.1:n.*90A>G
XR_932805.1:n.3000A>G
XM_011522424.3:c.*90A>G	XP_011520726.1:n.*90A>G
XM_017023043.2:c.*90A>G	XP_016878532.1:n.*90A>G
NM_005236.3:c.*90A>G MANE Select	NP_005227.1:n.*90A>G