Canonical Allele Identifier: CA378157708
Gene: CWF19L1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.100253424T>G , CM000672.2:g.100253424T>G GRCh38
NC_000010.10:g.102013181T>G , CM000672.1:g.102013181T>G GRCh37
NC_000010.9:g.102003171T>G NCBI36
NG_041811.1:g.19258A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000354105.10:c.620A>C MANE Select ENSP00000326411.6:p.Tyr207Ser
ENST00000354105.8:c.620A>C ENSP00000326411.6:p.Tyr207Ser
ENST00000466955.5:n.177A>C
ENST00000468709.5:n.476A>C
ENST00000473842.1:n.592A>C
ENST00000478047.1:n.1196A>C
ENST00000482452.5:n.308A>C
ENST00000496796.5:n.384A>C
NM_001303404.1:c.620A>C NP_001290333.1:p.Tyr207Ser
NM_001303405.1:c.209A>C NP_001290334.1:p.Tyr70Ser
NM_001303406.1:c.209A>C NP_001290335.1:p.Tyr70Ser
NM_001303407.1:c.-116A>C NP_001290336.1:n.-116A>C
NM_018294.5:c.620A>C NP_060764.3:p.Tyr207Ser
NM_018294.6:c.620A>C MANE Select NP_060764.3:p.Tyr207Ser
NM_001303404.2:c.620A>C NP_001290333.1:p.Tyr207Ser
NM_001303405.2:c.209A>C NP_001290334.1:p.Tyr70Ser
NM_001303406.2:c.209A>C NP_001290335.1:p.Tyr70Ser
NM_001303407.2:c.-116A>C NP_001290336.1:n.-116A>C