Canonical Allele Identifier: CA5646955

Gene: CWF19L1

Linked Data

• dbSNP Id: rs751417213
• ExAC: 10:101997898 C / A
• gnomAD v2: 10-101997898-C-A
• gnomAD v3: 10-100238141-C-A
• gnomAD v4: 10-100238141-C-A
• MyVariant Identifiers: chr10:g.101997898C>A (hg19) ; chr10:g.100238141C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100238141C>A , CM000672.2:g.100238141C>A	GRCh38
NC_000010.10:g.101997898C>A , CM000672.1:g.101997898C>A	GRCh37
NC_000010.9:g.101987888C>A	NCBI36
NG_041811.1:g.34541G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000354105.10:c.1135G>T MANE Select	ENSP00000326411.6:p.Ala379Ser
ENST00000354105.8:c.1135G>T	ENSP00000326411.6:p.Ala379Ser
ENST00000370379.1:c.400G>T	ENSP00000359405.1:p.Ala134Ser
ENST00000468709.5:n.991G>T
ENST00000478047.1:n.1290G>T
ENST00000482452.5:n.818G>T
NM_001303404.1:c.1135G>T	NP_001290333.1:p.Ala379Ser
NM_001303405.1:c.724G>T	NP_001290334.1:p.Ala242Ser
NM_001303406.1:c.724G>T	NP_001290335.1:p.Ala242Ser
NM_001303407.1:c.400G>T	NP_001290336.1:p.Ala134Ser
NM_018294.5:c.1135G>T	NP_060764.3:p.Ala379Ser
NM_018294.6:c.1135G>T MANE Select	NP_060764.3:p.Ala379Ser
NM_001303404.2:c.1135G>T	NP_001290333.1:p.Ala379Ser
NM_001303405.2:c.724G>T	NP_001290334.1:p.Ala242Ser
NM_001303406.2:c.724G>T	NP_001290335.1:p.Ala242Ser
NM_001303407.2:c.400G>T	NP_001290336.1:p.Ala134Ser