Canonical Allele Identifier: CA718306602

Gene: ERCC4

Linked Data

• dbSNP Id: rs1158012709
• gnomAD v3: 16-13948593-A-AT
• gnomAD v4: 16-13948593-A-AT
• MyVariant Identifiers: chr16:g.14042450_14042451insT (hg19) ; chr16:g.13948593_13948594insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948594dup , CM000678.2:g.13948594dup	GRCh38
NC_000016.9:g.14042451dup , CM000678.1:g.14042451dup	GRCh37
NC_000016.8:g.13949952dup	NCBI36
NG_011442.1:g.33438dup , LRG_463:g.33438dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.*247dup	ENSP00000507912.1:n.*247dup
ENST00000683962.1:c.*2692dup	ENSP00000506854.1:n.*2692dup
ENST00000311895.8:c.*247dup MANE Select	ENSP00000310520.7:n.*247dup
ENST00000311895.7:c.*247dup	ENSP00000310520.7:n.*247dup
NM_005236.2:c.*247dup , LRG_463t1:c.*247dup	NP_005227.1:n.*247dup
XM_011522424.1:c.*247dup	XP_011520726.1:n.*247dup
XM_011522425.1:c.*247dup	XP_011520727.1:n.*247dup
XM_011522426.1:c.*247dup	XP_011520728.1:n.*247dup
XM_011522427.1:c.*247dup	XP_011520729.1:n.*247dup
XR_932805.1:n.3073+84dup
XM_011522424.3:c.*247dup	XP_011520726.1:n.*247dup
XM_017023043.2:c.*247dup	XP_016878532.1:n.*247dup
NM_005236.3:c.*247dup MANE Select	NP_005227.1:n.*247dup