Canonical Allele Identifier: CA5646954

Gene: CWF19L1

Linked Data

• dbSNP Id: rs762678900
• ExAC: 10:101997897 G / T
• gnomAD v2: 10-101997897-G-T
• gnomAD v4: 10-100238140-G-T
• MyVariant Identifiers: chr10:g.101997897G>T (hg19) ; chr10:g.100238140G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100238140G>T , CM000672.2:g.100238140G>T	GRCh38
NC_000010.10:g.101997897G>T , CM000672.1:g.101997897G>T	GRCh37
NC_000010.9:g.101987887G>T	NCBI36
NG_041811.1:g.34542C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000354105.10:c.1136C>A MANE Select	ENSP00000326411.6:p.Ala379Glu
ENST00000354105.8:c.1136C>A	ENSP00000326411.6:p.Ala379Glu
ENST00000370379.1:c.401C>A	ENSP00000359405.1:p.Ala134Glu
ENST00000468709.5:n.992C>A
ENST00000478047.1:n.1291C>A
ENST00000482452.5:n.819C>A
NM_001303404.1:c.1136C>A	NP_001290333.1:p.Ala379Glu
NM_001303405.1:c.725C>A	NP_001290334.1:p.Ala242Glu
NM_001303406.1:c.725C>A	NP_001290335.1:p.Ala242Glu
NM_001303407.1:c.401C>A	NP_001290336.1:p.Ala134Glu
NM_018294.5:c.1136C>A	NP_060764.3:p.Ala379Glu
NM_018294.6:c.1136C>A MANE Select	NP_060764.3:p.Ala379Glu
NM_001303404.2:c.1136C>A	NP_001290333.1:p.Ala379Glu
NM_001303405.2:c.725C>A	NP_001290334.1:p.Ala242Glu
NM_001303406.2:c.725C>A	NP_001290335.1:p.Ala242Glu
NM_001303407.2:c.401C>A	NP_001290336.1:p.Ala134Glu