Canonical Allele Identifier: CA378161744
Gene: CWF19L1 HGNC NCBI

Linked Data

ClinVar Variation Id: 488454
ClinVar RCV Id: RCV000578457

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.100238126C>A , CM000672.2:g.100238126C>A GRCh38
NC_000010.10:g.101997883C>A , CM000672.1:g.101997883C>A GRCh37
NC_000010.9:g.101987873C>A NCBI36
NG_041811.1:g.34556G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000354105.10:c.1150G>T MANE Select ENSP00000326411.6:p.Glu384Ter
ENST00000354105.8:c.1150G>T ENSP00000326411.6:p.Glu384Ter
ENST00000370379.1:c.415G>T ENSP00000359405.1:p.Glu139Ter
ENST00000468709.5:n.1006G>T
ENST00000478047.1:n.1305G>T
ENST00000482452.5:n.833G>T
NM_001303404.1:c.1150G>T NP_001290333.1:p.Glu384Ter
NM_001303405.1:c.739G>T NP_001290334.1:p.Glu247Ter
NM_001303406.1:c.739G>T NP_001290335.1:p.Glu247Ter
NM_001303407.1:c.415G>T NP_001290336.1:p.Glu139Ter
NM_018294.5:c.1150G>T NP_060764.3:p.Glu384Ter
NM_018294.6:c.1150G>T MANE Select NP_060764.3:p.Glu384Ter
NM_001303404.2:c.1150G>T NP_001290333.1:p.Glu384Ter
NM_001303405.2:c.739G>T NP_001290334.1:p.Glu247Ter
NM_001303406.2:c.739G>T NP_001290335.1:p.Glu247Ter
NM_001303407.2:c.415G>T NP_001290336.1:p.Glu139Ter