Canonical Allele Identifier: CA378161775

Gene: CWF19L1

Linked Data

• dbSNP Id: rs1270531474
• gnomAD v3: 10-100238131-A-G
• gnomAD v4: 10-100238131-A-G
• MyVariant Identifiers: chr10:g.101997888A>G (hg19) ; chr10:g.100238131A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100238131A>G , CM000672.2:g.100238131A>G	GRCh38
NC_000010.10:g.101997888A>G , CM000672.1:g.101997888A>G	GRCh37
NC_000010.9:g.101987878A>G	NCBI36
NG_041811.1:g.34551T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000354105.10:c.1145T>C MANE Select	ENSP00000326411.6:p.Val382Ala
ENST00000354105.8:c.1145T>C	ENSP00000326411.6:p.Val382Ala
ENST00000370379.1:c.410T>C	ENSP00000359405.1:p.Val137Ala
ENST00000468709.5:n.1001T>C
ENST00000478047.1:n.1300T>C
ENST00000482452.5:n.828T>C
NM_001303404.1:c.1145T>C	NP_001290333.1:p.Val382Ala
NM_001303405.1:c.734T>C	NP_001290334.1:p.Val245Ala
NM_001303406.1:c.734T>C	NP_001290335.1:p.Val245Ala
NM_001303407.1:c.410T>C	NP_001290336.1:p.Val137Ala
NM_018294.5:c.1145T>C	NP_060764.3:p.Val382Ala
NM_018294.6:c.1145T>C MANE Select	NP_060764.3:p.Val382Ala
NM_001303404.2:c.1145T>C	NP_001290333.1:p.Val382Ala
NM_001303405.2:c.734T>C	NP_001290334.1:p.Val245Ala
NM_001303406.2:c.734T>C	NP_001290335.1:p.Val245Ala
NM_001303407.2:c.410T>C	NP_001290336.1:p.Val137Ala