Canonical Allele Identifier: CA493690048

Gene: ERCC4

Linked Data

• dbSNP Id: rs2141620717
• gnomAD v4: 16-13948008-C-A
• MyVariant Identifiers: chr16:g.14041865C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948008C>A , CM000678.2:g.13948008C>A	GRCh38
NC_000016.9:g.14041865C>A , CM000678.1:g.14041865C>A	GRCh37
NC_000016.8:g.13949366C>A	NCBI36
NG_011442.1:g.32852C>A , LRG_463:g.32852C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682617.1:c.2550C>A	ENSP00000507912.1:p.Pro850=
ENST00000683962.1:c.*2106C>A	ENSP00000506854.1:n.*2106C>A
ENST00000311895.8:c.2412C>A MANE Select	ENSP00000310520.7:p.Pro804=
ENST00000311895.7:c.2412C>A	ENSP00000310520.7:p.Pro804=
ENST00000389138.7:n.1689C>A
NM_005236.2:c.2412C>A , LRG_463t1:c.2412C>A	NP_005227.1:p.Pro804=
XM_011522424.1:c.2550C>A	XP_011520726.1:p.Pro850=
XM_011522425.1:c.1869C>A	XP_011520727.1:p.Pro623=
XM_011522426.1:c.1623C>A	XP_011520728.1:p.Pro541=
XM_011522427.1:c.1062C>A	XP_011520729.1:p.Pro354=
XR_932805.1:n.2571C>A
XM_011522424.3:c.2550C>A	XP_011520726.1:p.Pro850=
XM_017023043.2:c.1623C>A	XP_016878532.1:p.Pro541=
NM_005236.3:c.2412C>A MANE Select	NP_005227.1:p.Pro804=