Canonical Allele Identifier: CA176576
Gene: LHFPL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 163859
dbSNP Id: rs555379908
gnomAD v2: 6-35782548-C-A
gnomAD v3: 6-35814771-C-A
gnomAD v4: 6-35814771-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35814771C>A , CM000668.2:g.35814771C>A GRCh38
NC_000006.11:g.35782548C>A , CM000668.1:g.35782548C>A GRCh37
NC_000006.10:g.35890526C>A NCBI36
NG_012184.1:g.14478C>A
NG_012184.2:g.14478C>A
NG_012184.3:g.22566C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360215.3:c.638C>A MANE Select ENSP00000353346.1:p.Ala213Glu
ENST00000496656.2:n.417C>A
ENST00000651132.1:c.638C>A ENSP00000498322.1:p.Ala213Glu
ENST00000651676.1:c.638C>A ENSP00000498699.1:p.Ala213Glu
ENST00000651994.1:c.*70-4666C>A ENSP00000498310.1:n.*70-4666C>A
ENST00000652718.1:c.470C>A ENSP00000498866.1:p.Ala157Glu
ENST00000360215.2:c.638C>A ENSP00000353346.1:p.Ala213Glu
ENST00000496656.1:n.417C>A
NM_182548.3:c.638C>A NP_872354.1:p.Ala213Glu
XM_011514403.1:c.638C>A XP_011512705.1:p.Ala213Glu
NM_182548.4:c.638C>A MANE Select NP_872354.1:p.Ala213Glu