Canonical Allele Identifier: CA5647128

Gene: CWF19L1

Linked Data

• dbSNP Id: rs766083296
• ExAC: 10:102013183 T / C
• gnomAD v2: 10-102013183-T-C
• gnomAD v4: 10-100253426-T-C
• MyVariant Identifiers: chr10:g.102013183T>C (hg19) ; chr10:g.100253426T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100253426T>C , CM000672.2:g.100253426T>C	GRCh38
NC_000010.10:g.102013183T>C , CM000672.1:g.102013183T>C	GRCh37
NC_000010.9:g.102003173T>C	NCBI36
NG_041811.1:g.19256A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000354105.10:c.618A>G MANE Select	ENSP00000326411.6:p.Pro206=
ENST00000354105.8:c.618A>G	ENSP00000326411.6:p.Pro206=
ENST00000466955.5:n.175A>G
ENST00000468709.5:n.474A>G
ENST00000473842.1:n.590A>G
ENST00000478047.1:n.1194A>G
ENST00000482452.5:n.306A>G
ENST00000496796.5:n.382A>G
NM_001303404.1:c.618A>G	NP_001290333.1:p.Pro206=
NM_001303405.1:c.207A>G	NP_001290334.1:p.Pro69=
NM_001303406.1:c.207A>G	NP_001290335.1:p.Pro69=
NM_001303407.1:c.-118A>G	NP_001290336.1:n.-118A>G
NM_018294.5:c.618A>G	NP_060764.3:p.Pro206=
NM_018294.6:c.618A>G MANE Select	NP_060764.3:p.Pro206=
NM_001303404.2:c.618A>G	NP_001290333.1:p.Pro206=
NM_001303405.2:c.207A>G	NP_001290334.1:p.Pro69=
NM_001303406.2:c.207A>G	NP_001290335.1:p.Pro69=
NM_001303407.2:c.-118A>G	NP_001290336.1:n.-118A>G