Canonical Allele Identifier: CA493690191
Gene: ERCC4 HGNC NCBI

Linked Data

dbSNP Id: rs1392409752
MyVariant Identifiers: chr16:g.14041997C>A (hg19)

Genomic Alleles

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

Transcript Alleles

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