Canonical Allele Identifier: CA137313942
Gene: LHFPL5 HGNC NCBI

Linked Data

dbSNP Id: rs367677607
gnomAD v3: 6-35823704-G-A
gnomAD v4: 6-35823704-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35823704G>A , CM000668.2:g.35823704G>A GRCh38
NC_000006.11:g.35791481G>A , CM000668.1:g.35791481G>A GRCh37
NC_000006.10:g.35899459G>A NCBI36
NG_012184.1:g.23411G>A
NG_012184.2:g.23411G>A
NG_012184.3:g.31499G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360215.3:c.*739G>A MANE Select ENSP00000353346.1:n.*739G>A
ENST00000496656.2:n.578+3884G>A
ENST00000651132.1:c.*739G>A ENSP00000498322.1:n.*739G>A
ENST00000651676.1:c.*16+4241G>A ENSP00000498699.1:n.*16+4241G>A
ENST00000651994.1:c.*819G>A ENSP00000498310.1:n.*819G>A
ENST00000652718.1:c.508+4241G>A ENSP00000498866.1:n.508+4241G>A
ENST00000360215.2:c.*739G>A ENSP00000353346.1:n.*739G>A
ENST00000496656.1:n.812+3884G>A
NM_182548.3:c.*739G>A NP_872354.1:n.*739G>A
NM_182548.4:c.*739G>A MANE Select NP_872354.1:n.*739G>A