Canonical Allele Identifier: CA394811243

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029291C>A (hg19) ; chr16:g.13935434C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935434C>A , CM000678.2:g.13935434C>A	GRCh38
NC_000016.9:g.14029291C>A , CM000678.1:g.14029291C>A	GRCh37
NC_000016.8:g.13936792C>A	NCBI36
NG_011442.1:g.20278C>A , LRG_463:g.20278C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1580C>A
ENST00000682617.1:c.1640C>A	ENSP00000507912.1:p.Pro547His
ENST00000682826.1:c.*816C>A	ENSP00000507274.1:n.*816C>A
ENST00000682909.1:n.3542C>A
ENST00000683277.1:n.3147C>A
ENST00000683407.1:n.1510C>A
ENST00000683962.1:c.*1196C>A	ENSP00000506854.1:n.*1196C>A
ENST00000311895.8:c.1502C>A MANE Select	ENSP00000310520.7:p.Pro501His
ENST00000311895.7:c.1502C>A	ENSP00000310520.7:p.Pro501His
ENST00000389138.7:n.779C>A
NM_005236.2:c.1502C>A , LRG_463t1:c.1502C>A	NP_005227.1:p.Pro501His
XM_011522424.1:c.1640C>A	XP_011520726.1:p.Pro547His
XM_011522425.1:c.959C>A	XP_011520727.1:p.Pro320His
XM_011522426.1:c.713C>A	XP_011520728.1:p.Pro238His
XM_011522427.1:c.152C>A	XP_011520729.1:p.Pro51His
XR_932805.1:n.1661C>A
XM_011522424.3:c.1640C>A	XP_011520726.1:p.Pro547His
XM_017023043.2:c.713C>A	XP_016878532.1:p.Pro238His
NM_005236.3:c.1502C>A MANE Select	NP_005227.1:p.Pro501His