Canonical Allele Identifier: CA3774423
Gene: LHFPL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1393163
ClinVar RCV Id: RCV001898175
dbSNP Id: rs566829909
gnomAD v2: 6-35782383-G-A
gnomAD v3: 6-35814606-G-A
gnomAD v4: 6-35814606-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35814606G>A , CM000668.2:g.35814606G>A GRCh38
NC_000006.11:g.35782383G>A , CM000668.1:g.35782383G>A GRCh37
NC_000006.10:g.35890361G>A NCBI36
NG_012184.1:g.14313G>A
NG_012184.2:g.14313G>A
NG_012184.3:g.22401G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360215.3:c.473G>A MANE Select ENSP00000353346.1:p.Arg158Gln
ENST00000496656.2:n.252G>A
ENST00000651132.1:c.473G>A ENSP00000498322.1:p.Arg158Gln
ENST00000651676.1:c.473G>A ENSP00000498699.1:p.Arg158Gln
ENST00000651994.1:c.*70-4831G>A ENSP00000498310.1:n.*70-4831G>A
ENST00000652718.1:c.305G>A ENSP00000498866.1:p.Arg102Gln
ENST00000360215.2:c.473G>A ENSP00000353346.1:p.Arg158Gln
ENST00000496656.1:n.252G>A
NM_182548.3:c.473G>A NP_872354.1:p.Arg158Gln
XM_011514403.1:c.473G>A XP_011512705.1:p.Arg158Gln
NM_182548.4:c.473G>A MANE Select NP_872354.1:p.Arg158Gln