Canonical Allele Identifier: CA137313989
Gene: LHFPL5 HGNC NCBI

Linked Data

dbSNP Id: rs146056913
gnomAD v2: 6-35791678-A-G
gnomAD v3: 6-35823901-A-G
gnomAD v4: 6-35823901-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35823901A>G , CM000668.2:g.35823901A>G GRCh38
NC_000006.11:g.35791678A>G , CM000668.1:g.35791678A>G GRCh37
NC_000006.10:g.35899656A>G NCBI36
NG_012184.1:g.23608A>G
NG_012184.2:g.23608A>G
NG_012184.3:g.31696A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360215.3:c.*936A>G MANE Select ENSP00000353346.1:n.*936A>G
ENST00000496656.2:n.578+4081A>G
ENST00000651132.1:c.*936A>G ENSP00000498322.1:n.*936A>G
ENST00000651676.1:c.*16+4438A>G ENSP00000498699.1:n.*16+4438A>G
ENST00000652718.1:c.508+4438A>G ENSP00000498866.1:n.508+4438A>G
ENST00000360215.2:c.*936A>G ENSP00000353346.1:n.*936A>G
ENST00000496656.1:n.812+4081A>G
NM_182548.3:c.*936A>G NP_872354.1:n.*936A>G
NM_182548.4:c.*936A>G MANE Select NP_872354.1:n.*936A>G