Canonical Allele Identifier: CA10626692
Gene: LHFPL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 356482
ClinVar RCV Id: RCV000284510
dbSNP Id: rs886061342
gnomAD v2: 6-35773287-A-G
gnomAD v3: 6-35805510-A-G
gnomAD v4: 6-35805510-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35805510A>G , CM000668.2:g.35805510A>G GRCh38
NC_000006.11:g.35773287A>G , CM000668.1:g.35773287A>G GRCh37
NC_000006.10:g.35881265A>G NCBI36
NG_012184.1:g.5217A>G
NG_012184.2:g.5217A>G
NG_012184.3:g.13305A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360215.3:c.-161A>G MANE Select ENSP00000353346.1:n.-161A>G
ENST00000651132.1:c.-134-27A>G ENSP00000498322.1:n.-134-27A>G
ENST00000651676.1:c.-161A>G ENSP00000498699.1:n.-161A>G
ENST00000651994.1:c.-161A>G ENSP00000498310.1:n.-161A>G
ENST00000360215.2:c.-161A>G ENSP00000353346.1:n.-161A>G
NM_182548.3:c.-161A>G NP_872354.1:n.-161A>G
XM_011514403.1:c.-134-27A>G XP_011512705.1:n.-134-27A>G
NM_182548.4:c.-161A>G MANE Select NP_872354.1:n.-161A>G