Canonical Allele Identifier: CA493690192

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14041997C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948140C>G , CM000678.2:g.13948140C>G	GRCh38
NC_000016.9:g.14041997C>G , CM000678.1:g.14041997C>G	GRCh37
NC_000016.8:g.13949498C>G	NCBI36
NG_011442.1:g.32984C>G , LRG_463:g.32984C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2682C>G	ENSP00000507912.1:p.Pro894=
ENST00000683962.1:c.*2238C>G	ENSP00000506854.1:n.*2238C>G
ENST00000311895.8:c.2544C>G MANE Select	ENSP00000310520.7:p.Pro848=
ENST00000311895.7:c.2544C>G	ENSP00000310520.7:p.Pro848=
ENST00000389138.7:n.1821C>G
NM_005236.2:c.2544C>G , LRG_463t1:c.2544C>G	NP_005227.1:p.Pro848=
XM_011522424.1:c.2682C>G	XP_011520726.1:p.Pro894=
XM_011522425.1:c.2001C>G	XP_011520727.1:p.Pro667=
XM_011522426.1:c.1755C>G	XP_011520728.1:p.Pro585=
XM_011522427.1:c.1194C>G	XP_011520729.1:p.Pro398=
XR_932805.1:n.2703C>G
XM_011522424.3:c.2682C>G	XP_011520726.1:p.Pro894=
XM_017023043.2:c.1755C>G	XP_016878532.1:p.Pro585=
NM_005236.3:c.2544C>G MANE Select	NP_005227.1:p.Pro848=