Canonical Allele Identifier: CA471156226

Gene: CWF19L1

Linked Data

• dbSNP Id: rs767475660
• gnomAD v3: 10-100238148-C-T
• gnomAD v4: 10-100238148-C-T
• MyVariant Identifiers: chr10:g.101997905C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100238148C>T , CM000672.2:g.100238148C>T	GRCh38
NC_000010.10:g.101997905C>T , CM000672.1:g.101997905C>T	GRCh37
NC_000010.9:g.101987895C>T	NCBI36
NG_041811.1:g.34534G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354105.10:c.1128G>A MANE Select	ENSP00000326411.6:p.Glu376=
ENST00000354105.8:c.1128G>A	ENSP00000326411.6:p.Glu376=
ENST00000370379.1:c.393G>A	ENSP00000359405.1:p.Glu131=
ENST00000468709.5:n.984G>A
ENST00000478047.1:n.1283G>A
ENST00000482452.5:n.811G>A
NM_001303404.1:c.1128G>A	NP_001290333.1:p.Glu376=
NM_001303405.1:c.717G>A	NP_001290334.1:p.Glu239=
NM_001303406.1:c.717G>A	NP_001290335.1:p.Glu239=
NM_001303407.1:c.393G>A	NP_001290336.1:p.Glu131=
NM_018294.5:c.1128G>A	NP_060764.3:p.Glu376=
NM_018294.6:c.1128G>A MANE Select	NP_060764.3:p.Glu376=
NM_001303404.2:c.1128G>A	NP_001290333.1:p.Glu376=
NM_001303405.2:c.717G>A	NP_001290334.1:p.Glu239=
NM_001303406.2:c.717G>A	NP_001290335.1:p.Glu239=
NM_001303407.2:c.393G>A	NP_001290336.1:p.Glu131=