Canonical Allele Identifier: CA10626540
Gene: LHFPL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 356496
ClinVar RCV Id: RCV000271185
dbSNP Id: rs2766530

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35823310G>A , CM000668.2:g.35823310G>A GRCh38
NC_000006.11:g.35791087G>A , CM000668.1:g.35791087G>A GRCh37
NC_000006.10:g.35899065G>A NCBI36
NG_012184.1:g.23017G>A
NG_012184.2:g.23017G>A
NG_012184.3:g.31105G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000360215.3:c.*345G>A MANE Select ENSP00000353346.1:p.=
ENST00000496656.2:n.578+3490G>A
ENST00000651132.1:c.*345G>A ENSP00000498322.1:p.=
ENST00000651676.1:c.*16+3847G>A ENSP00000498699.1:p.=
ENST00000651994.1:c.*425G>A ENSP00000498310.1:p.=
ENST00000652718.1:n.508+3847G>A ENSP00000498866.1:p.=
ENST00000360215.2:c.*345G>A ENSP00000353346.1:p.=
ENST00000496656.1:n.812+3490G>A
NM_182548.3:c.*345G>A NP_872354.1:p.=
XM_011514403.1:c.*345G>A XP_011512705.1:p.=
NM_182548.4:c.*345G>A MANE Select NP_872354.1:p.=