Canonical Allele Identifier: CA471156104
Gene: CWF19L1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.101997784G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.100238027G>A , CM000672.2:g.100238027G>A GRCh38
NC_000010.10:g.101997784G>A , CM000672.1:g.101997784G>A GRCh37
NC_000010.9:g.101987774G>A NCBI36
NG_041811.1:g.34655C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000354105.10:c.1249C>T MANE Select ENSP00000326411.6:p.Leu417=
ENST00000354105.8:c.1249C>T ENSP00000326411.6:p.Leu417=
ENST00000370379.1:c.514C>T ENSP00000359405.1:p.Leu172=
ENST00000468709.5:n.1105C>T
ENST00000478047.1:n.1404C>T
ENST00000482452.5:n.932C>T
NM_001303404.1:c.1249C>T NP_001290333.1:p.Leu417=
NM_001303405.1:c.838C>T NP_001290334.1:p.Leu280=
NM_001303406.1:c.838C>T NP_001290335.1:p.Leu280=
NM_001303407.1:c.514C>T NP_001290336.1:p.Leu172=
NM_018294.5:c.1249C>T NP_060764.3:p.Leu417=
NM_018294.6:c.1249C>T MANE Select NP_060764.3:p.Leu417=
NM_001303404.2:c.1249C>T NP_001290333.1:p.Leu417=
NM_001303405.2:c.838C>T NP_001290334.1:p.Leu280=
NM_001303406.2:c.838C>T NP_001290335.1:p.Leu280=
NM_001303407.2:c.514C>T NP_001290336.1:p.Leu172=