Canonical Allele Identifier: CA16605591

Gene: CWF19L1

Linked Data

• ClinVar Variation Id: 379851
• ClinVar RCV Id: RCV000421382
• dbSNP Id: rs1057520757
• MyVariant Identifiers: chr10:g.102005672T>C (hg19) ; chr10:g.100245915T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100245915T>C , CM000672.2:g.100245915T>C	GRCh38
NC_000010.10:g.102005672T>C , CM000672.1:g.102005672T>C	GRCh37
NC_000010.9:g.101995662T>C	NCBI36
NG_041811.1:g.26767A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354105.10:c.850-2A>G MANE Select	ENSP00000326411.6:n.850-2A>G
ENST00000354105.8:c.850-2A>G	ENSP00000326411.6:n.850-2A>G
ENST00000370379.1:c.115-2A>G	ENSP00000359405.1:n.115-2A>G
ENST00000466408.1:n.202A>G
ENST00000466955.5:n.391-2A>G
ENST00000468709.5:n.706-2A>G
ENST00000478047.1:n.1199+7506A>G
ENST00000482452.5:n.538-2A>G
ENST00000496796.5:n.614-2A>G
NM_001303404.1:c.850-2A>G	NP_001290333.1:n.850-2A>G
NM_001303405.1:c.439-2A>G	NP_001290334.1:n.439-2A>G
NM_001303406.1:c.439-2A>G	NP_001290335.1:n.439-2A>G
NM_001303407.1:c.115-2A>G	NP_001290336.1:n.115-2A>G
NM_018294.5:c.850-2A>G	NP_060764.3:n.850-2A>G
NM_018294.6:c.850-2A>G MANE Select	NP_060764.3:n.850-2A>G
NM_001303404.2:c.850-2A>G	NP_001290333.1:n.850-2A>G
NM_001303405.2:c.439-2A>G	NP_001290334.1:n.439-2A>G
NM_001303406.2:c.439-2A>G	NP_001290335.1:n.439-2A>G
NM_001303407.2:c.115-2A>G	NP_001290336.1:n.115-2A>G