Canonical Allele Identifier: CA394812685

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029561T>A (hg19) ; chr16:g.13935704T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935704T>A , CM000678.2:g.13935704T>A	GRCh38
NC_000016.9:g.14029561T>A , CM000678.1:g.14029561T>A	GRCh37
NC_000016.8:g.13937062T>A	NCBI36
NG_011442.1:g.20548T>A , LRG_463:g.20548T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1850T>A
ENST00000682617.1:c.1910T>A	ENSP00000507912.1:p.Leu637His
ENST00000682826.1:c.*1086T>A	ENSP00000507274.1:n.*1086T>A
ENST00000682909.1:n.3812T>A
ENST00000683277.1:n.3417T>A
ENST00000683407.1:n.1780T>A
ENST00000683962.1:c.*1466T>A	ENSP00000506854.1:n.*1466T>A
ENST00000311895.8:c.1772T>A MANE Select	ENSP00000310520.7:p.Leu591His
ENST00000311895.7:c.1772T>A	ENSP00000310520.7:p.Leu591His
ENST00000389138.7:n.1049T>A
NM_005236.2:c.1772T>A , LRG_463t1:c.1772T>A	NP_005227.1:p.Leu591His
XM_011522424.1:c.1910T>A	XP_011520726.1:p.Leu637His
XM_011522425.1:c.1229T>A	XP_011520727.1:p.Leu410His
XM_011522426.1:c.983T>A	XP_011520728.1:p.Leu328His
XM_011522427.1:c.422T>A	XP_011520729.1:p.Leu141His
XR_932805.1:n.1931T>A
XM_011522424.3:c.1910T>A	XP_011520726.1:p.Leu637His
XM_017023043.2:c.983T>A	XP_016878532.1:p.Leu328His
NM_005236.3:c.1772T>A MANE Select	NP_005227.1:p.Leu591His