Canonical Allele Identifier: CA5647026

Gene: CWF19L1

Linked Data

• ClinVar Variation Id: 730375
• ClinVar RCV Id: RCV000905171 ; RCV002502687
• dbSNP Id: rs151250620
• ExAC: 10:102005580 G / A
• gnomAD v2: 10-102005580-G-A
• gnomAD v3: 10-100245823-G-A
• gnomAD v4: 10-100245823-G-A
• COSMIC: COSM3934892
• MyVariant Identifiers: chr10:g.102005580G>A (hg19) ; chr10:g.100245823G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100245823G>A , CM000672.2:g.100245823G>A	GRCh38
NC_000010.10:g.102005580G>A , CM000672.1:g.102005580G>A	GRCh37
NC_000010.9:g.101995570G>A	NCBI36
NG_041811.1:g.26859C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354105.10:c.940C>T MANE Select	ENSP00000326411.6:p.His314Tyr
ENST00000354105.8:c.940C>T	ENSP00000326411.6:p.His314Tyr
ENST00000370379.1:c.205C>T	ENSP00000359405.1:p.His69Tyr
ENST00000466408.1:n.294C>T
ENST00000466955.5:n.481C>T
ENST00000468709.5:n.796C>T
ENST00000478047.1:n.1200-7592C>T
ENST00000482452.5:n.628C>T
ENST00000496796.5:n.704C>T
NM_001303404.1:c.940C>T	NP_001290333.1:p.His314Tyr
NM_001303405.1:c.529C>T	NP_001290334.1:p.His177Tyr
NM_001303406.1:c.529C>T	NP_001290335.1:p.His177Tyr
NM_001303407.1:c.205C>T	NP_001290336.1:p.His69Tyr
NM_018294.5:c.940C>T	NP_060764.3:p.His314Tyr
NM_018294.6:c.940C>T MANE Select	NP_060764.3:p.His314Tyr
NM_001303404.2:c.940C>T	NP_001290333.1:p.His314Tyr
NM_001303405.2:c.529C>T	NP_001290334.1:p.His177Tyr
NM_001303406.2:c.529C>T	NP_001290335.1:p.His177Tyr
NM_001303407.2:c.205C>T	NP_001290336.1:p.His69Tyr