Canonical Allele Identifier: CA394822374

Gene: ERCC4

Linked Data

• dbSNP Id: rs2032545210
• MyVariant Identifiers: chr16:g.14041636G>T (hg19) ; chr16:g.13947779G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947779G>T , CM000678.2:g.13947779G>T	GRCh38
NC_000016.9:g.14041636G>T , CM000678.1:g.14041636G>T	GRCh37
NC_000016.8:g.13949137G>T	NCBI36
NG_011442.1:g.32623G>T , LRG_463:g.32623G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2321G>T	ENSP00000507912.1:p.Ser774Ile
ENST00000683962.1:c.*1877G>T	ENSP00000506854.1:n.*1877G>T
ENST00000311895.8:c.2183G>T MANE Select	ENSP00000310520.7:p.Ser728Ile
ENST00000311895.7:c.2183G>T	ENSP00000310520.7:p.Ser728Ile
ENST00000389138.7:n.1460G>T
ENST00000462862.1:c.496G>T	ENSP00000461322.1:n.496G>T
NM_005236.2:c.2183G>T , LRG_463t1:c.2183G>T	NP_005227.1:p.Ser728Ile
XM_011522424.1:c.2321G>T	XP_011520726.1:p.Ser774Ile
XM_011522425.1:c.1640G>T	XP_011520727.1:p.Ser547Ile
XM_011522426.1:c.1394G>T	XP_011520728.1:p.Ser465Ile
XM_011522427.1:c.833G>T	XP_011520729.1:p.Ser278Ile
XR_932805.1:n.2342G>T
XM_011522424.3:c.2321G>T	XP_011520726.1:p.Ser774Ile
XM_017023043.2:c.1394G>T	XP_016878532.1:p.Ser465Ile
NM_005236.3:c.2183G>T MANE Select	NP_005227.1:p.Ser728Ile