Canonical Allele Identifier: CA378163873

Gene: CWF19L1

Linked Data

• MyVariant Identifiers: chr10:g.102005582G>T (hg19) ; chr10:g.100245825G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100245825G>T , CM000672.2:g.100245825G>T	GRCh38
NC_000010.10:g.102005582G>T , CM000672.1:g.102005582G>T	GRCh37
NC_000010.9:g.101995572G>T	NCBI36
NG_041811.1:g.26857C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000354105.10:c.938C>A MANE Select	ENSP00000326411.6:p.Pro313His
ENST00000354105.8:c.938C>A	ENSP00000326411.6:p.Pro313His
ENST00000370379.1:c.203C>A	ENSP00000359405.1:p.Pro68His
ENST00000466408.1:n.292C>A
ENST00000466955.5:n.479C>A
ENST00000468709.5:n.794C>A
ENST00000478047.1:n.1200-7594C>A
ENST00000482452.5:n.626C>A
ENST00000496796.5:n.702C>A
NM_001303404.1:c.938C>A	NP_001290333.1:p.Pro313His
NM_001303405.1:c.527C>A	NP_001290334.1:p.Pro176His
NM_001303406.1:c.527C>A	NP_001290335.1:p.Pro176His
NM_001303407.1:c.203C>A	NP_001290336.1:p.Pro68His
NM_018294.5:c.938C>A	NP_060764.3:p.Pro313His
NM_018294.6:c.938C>A MANE Select	NP_060764.3:p.Pro313His
NM_001303404.2:c.938C>A	NP_001290333.1:p.Pro313His
NM_001303405.2:c.527C>A	NP_001290334.1:p.Pro176His
NM_001303406.2:c.527C>A	NP_001290335.1:p.Pro176His
NM_001303407.2:c.203C>A	NP_001290336.1:p.Pro68His