Canonical Allele Identifier: CA2595190579
Gene: LHFPL5 HGNC NCBI

Linked Data

dbSNP Id: rs1768919665
gnomAD v3: 6-35823607-T-G
gnomAD v4: 6-35823607-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35823607T>G , CM000668.2:g.35823607T>G GRCh38
NC_000006.11:g.35791384T>G , CM000668.1:g.35791384T>G GRCh37
NC_000006.10:g.35899362T>G NCBI36
NG_012184.1:g.23314T>G
NG_012184.2:g.23314T>G
NG_012184.3:g.31402T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360215.3:c.*642T>G MANE Select ENSP00000353346.1:n.*642T>G
ENST00000496656.2:n.578+3787T>G
ENST00000651132.1:c.*642T>G ENSP00000498322.1:n.*642T>G
ENST00000651676.1:c.*16+4144T>G ENSP00000498699.1:n.*16+4144T>G
ENST00000651994.1:c.*722T>G ENSP00000498310.1:n.*722T>G
ENST00000652718.1:c.508+4144T>G ENSP00000498866.1:n.508+4144T>G
ENST00000360215.2:c.*642T>G ENSP00000353346.1:n.*642T>G
ENST00000496656.1:n.812+3787T>G
NM_182548.3:c.*642T>G NP_872354.1:n.*642T>G
NM_182548.4:c.*642T>G MANE Select NP_872354.1:n.*642T>G