Canonical Allele Identifier: CA471156222

Gene: CWF19L1

Linked Data

• dbSNP Id: rs1349918391
• gnomAD v4: 10-100238142-T-G
• MyVariant Identifiers: chr10:g.101997899T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100238142T>G , CM000672.2:g.100238142T>G	GRCh38
NC_000010.10:g.101997899T>G , CM000672.1:g.101997899T>G	GRCh37
NC_000010.9:g.101987889T>G	NCBI36
NG_041811.1:g.34540A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000354105.10:c.1134A>C MANE Select	ENSP00000326411.6:p.Ser378=
ENST00000354105.8:c.1134A>C	ENSP00000326411.6:p.Ser378=
ENST00000370379.1:c.399A>C	ENSP00000359405.1:p.Ser133=
ENST00000468709.5:n.990A>C
ENST00000478047.1:n.1289A>C
ENST00000482452.5:n.817A>C
NM_001303404.1:c.1134A>C	NP_001290333.1:p.Ser378=
NM_001303405.1:c.723A>C	NP_001290334.1:p.Ser241=
NM_001303406.1:c.723A>C	NP_001290335.1:p.Ser241=
NM_001303407.1:c.399A>C	NP_001290336.1:p.Ser133=
NM_018294.5:c.1134A>C	NP_060764.3:p.Ser378=
NM_018294.6:c.1134A>C MANE Select	NP_060764.3:p.Ser378=
NM_001303404.2:c.1134A>C	NP_001290333.1:p.Ser378=
NM_001303405.2:c.723A>C	NP_001290334.1:p.Ser241=
NM_001303406.2:c.723A>C	NP_001290335.1:p.Ser241=
NM_001303407.2:c.399A>C	NP_001290336.1:p.Ser133=