Canonical Allele Identifier: CA378157726

Gene: CWF19L1

Linked Data

• gnomAD v4: 10-100253433-C-T
• MyVariant Identifiers: chr10:g.102013190C>T (hg19) ; chr10:g.100253433C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100253433C>T , CM000672.2:g.100253433C>T	GRCh38
NC_000010.10:g.102013190C>T , CM000672.1:g.102013190C>T	GRCh37
NC_000010.9:g.102003180C>T	NCBI36
NG_041811.1:g.19249G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000354105.10:c.611G>A MANE Select	ENSP00000326411.6:p.Arg204Lys
ENST00000354105.8:c.611G>A	ENSP00000326411.6:p.Arg204Lys
ENST00000466955.5:n.168G>A
ENST00000468709.5:n.467G>A
ENST00000473842.1:n.583G>A
ENST00000478047.1:n.1187G>A
ENST00000482452.5:n.299G>A
ENST00000496796.5:n.375G>A
NM_001303404.1:c.611G>A	NP_001290333.1:p.Arg204Lys
NM_001303405.1:c.200G>A	NP_001290334.1:p.Arg67Lys
NM_001303406.1:c.200G>A	NP_001290335.1:p.Arg67Lys
NM_001303407.1:c.-125G>A	NP_001290336.1:n.-125G>A
NM_018294.5:c.611G>A	NP_060764.3:p.Arg204Lys
NM_018294.6:c.611G>A MANE Select	NP_060764.3:p.Arg204Lys
NM_001303404.2:c.611G>A	NP_001290333.1:p.Arg204Lys
NM_001303405.2:c.200G>A	NP_001290334.1:p.Arg67Lys
NM_001303406.2:c.200G>A	NP_001290335.1:p.Arg67Lys
NM_001303407.2:c.-125G>A	NP_001290336.1:n.-125G>A