Canonical Allele Identifier: CA10621984
Gene: LHFPL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 356488
ClinVar RCV Id: RCV000299489
dbSNP Id: rs886061343
gnomAD v3: 6-35805810-C-A
gnomAD v4: 6-35805810-C-A
MyVariant Identifiers: chr6:g.35773587C>A (hg19) chr6:g.35805810C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35805810C>A , CM000668.2:g.35805810C>A GRCh38
NC_000006.11:g.35773587C>A , CM000668.1:g.35773587C>A GRCh37
NC_000006.10:g.35881565C>A NCBI36
NG_012184.1:g.5517C>A
NG_012184.2:g.5517C>A
NG_012184.3:g.13605C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360215.3:c.140C>A MANE Select ENSP00000353346.1:p.Pro47His
ENST00000651132.1:c.140C>A ENSP00000498322.1:p.Pro47His
ENST00000651676.1:c.140C>A ENSP00000498699.1:p.Pro47His
ENST00000651994.1:c.140C>A ENSP00000498310.1:p.Pro47His
ENST00000360215.2:c.140C>A ENSP00000353346.1:p.Pro47His
NM_182548.3:c.140C>A NP_872354.1:p.Pro47His
XM_011514403.1:c.140C>A XP_011512705.1:p.Pro47His
NM_182548.4:c.140C>A MANE Select NP_872354.1:p.Pro47His
Search 100 bp 5'
Search 100 bp 3'