Canonical Allele Identifier: CA394811308

Gene: ERCC4

Linked Data

• dbSNP Id: rs2141607479
• gnomAD v4: 16-13935442-C-G
• MyVariant Identifiers: chr16:g.14029299C>G (hg19) ; chr16:g.13935442C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935442C>G , CM000678.2:g.13935442C>G	GRCh38
NC_000016.9:g.14029299C>G , CM000678.1:g.14029299C>G	GRCh37
NC_000016.8:g.13936800C>G	NCBI36
NG_011442.1:g.20286C>G , LRG_463:g.20286C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1588C>G
ENST00000682617.1:c.1648C>G	ENSP00000507912.1:p.Leu550Val
ENST00000682826.1:c.*824C>G	ENSP00000507274.1:n.*824C>G
ENST00000682909.1:n.3550C>G
ENST00000683277.1:n.3155C>G
ENST00000683407.1:n.1518C>G
ENST00000683962.1:c.*1204C>G	ENSP00000506854.1:n.*1204C>G
ENST00000311895.8:c.1510C>G MANE Select	ENSP00000310520.7:p.Leu504Val
ENST00000311895.7:c.1510C>G	ENSP00000310520.7:p.Leu504Val
ENST00000389138.7:n.787C>G
NM_005236.2:c.1510C>G , LRG_463t1:c.1510C>G	NP_005227.1:p.Leu504Val
XM_011522424.1:c.1648C>G	XP_011520726.1:p.Leu550Val
XM_011522425.1:c.967C>G	XP_011520727.1:p.Leu323Val
XM_011522426.1:c.721C>G	XP_011520728.1:p.Leu241Val
XM_011522427.1:c.160C>G	XP_011520729.1:p.Leu54Val
XR_932805.1:n.1669C>G
XM_011522424.3:c.1648C>G	XP_011520726.1:p.Leu550Val
XM_017023043.2:c.721C>G	XP_016878532.1:p.Leu241Val
NM_005236.3:c.1510C>G MANE Select	NP_005227.1:p.Leu504Val