Canonical Allele Identifier: CA3774356
Gene: LHFPL5 HGNC NCBI

Linked Data

dbSNP Id: rs762676826
gnomAD v2: 6-35773651-C-A
gnomAD v4: 6-35805874-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35805874C>A , CM000668.2:g.35805874C>A GRCh38
NC_000006.11:g.35773651C>A , CM000668.1:g.35773651C>A GRCh37
NC_000006.10:g.35881629C>A NCBI36
NG_012184.1:g.5581C>A
NG_012184.2:g.5581C>A
NG_012184.3:g.13669C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360215.3:c.204C>A MANE Select ENSP00000353346.1:p.Cys68Ter
ENST00000651132.1:c.204C>A ENSP00000498322.1:p.Cys68Ter
ENST00000651676.1:c.204C>A ENSP00000498699.1:p.Cys68Ter
ENST00000651994.1:c.204C>A ENSP00000498310.1:p.Cys68Ter
ENST00000652718.1:c.36C>A ENSP00000498866.1:p.Cys12Ter
ENST00000360215.2:c.204C>A ENSP00000353346.1:p.Cys68Ter
NM_182548.3:c.204C>A NP_872354.1:p.Cys68Ter
XM_011514403.1:c.204C>A XP_011512705.1:p.Cys68Ter
NM_182548.4:c.204C>A MANE Select NP_872354.1:p.Cys68Ter