Canonical Allele Identifier: CA378157718

Gene: CWF19L1

Linked Data

• gnomAD v4: 10-100253430-A-G
• MyVariant Identifiers: chr10:g.102013187A>G (hg19) ; chr10:g.100253430A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100253430A>G , CM000672.2:g.100253430A>G	GRCh38
NC_000010.10:g.102013187A>G , CM000672.1:g.102013187A>G	GRCh37
NC_000010.9:g.102003177A>G	NCBI36
NG_041811.1:g.19252T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000354105.10:c.614T>C MANE Select	ENSP00000326411.6:p.Leu205Pro
ENST00000354105.8:c.614T>C	ENSP00000326411.6:p.Leu205Pro
ENST00000466955.5:n.171T>C
ENST00000468709.5:n.470T>C
ENST00000473842.1:n.586T>C
ENST00000478047.1:n.1190T>C
ENST00000482452.5:n.302T>C
ENST00000496796.5:n.378T>C
NM_001303404.1:c.614T>C	NP_001290333.1:p.Leu205Pro
NM_001303405.1:c.203T>C	NP_001290334.1:p.Leu68Pro
NM_001303406.1:c.203T>C	NP_001290335.1:p.Leu68Pro
NM_001303407.1:c.-122T>C	NP_001290336.1:n.-122T>C
NM_018294.5:c.614T>C	NP_060764.3:p.Leu205Pro
NM_018294.6:c.614T>C MANE Select	NP_060764.3:p.Leu205Pro
NM_001303404.2:c.614T>C	NP_001290333.1:p.Leu205Pro
NM_001303405.2:c.203T>C	NP_001290334.1:p.Leu68Pro
NM_001303406.2:c.203T>C	NP_001290335.1:p.Leu68Pro
NM_001303407.2:c.-122T>C	NP_001290336.1:n.-122T>C