Canonical Allele Identifier: CA3774439
Gene: LHFPL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 872550
ClinVar RCV Id: RCV001093080
dbSNP Id: rs144981322
ExAC: 6:35782472 G / A
gnomAD v2: 6-35782472-G-A
gnomAD v3: 6-35814695-G-A
gnomAD v4: 6-35814695-G-A
MyVariant Identifiers: chr6:g.35782472G>A (hg19) chr6:g.35814695G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35814695G>A , CM000668.2:g.35814695G>A GRCh38
NC_000006.11:g.35782472G>A , CM000668.1:g.35782472G>A GRCh37
NC_000006.10:g.35890450G>A NCBI36
NG_012184.1:g.14402G>A
NG_012184.2:g.14402G>A
NG_012184.3:g.22490G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360215.3:c.562G>A MANE Select ENSP00000353346.1:p.Asp188Asn
ENST00000496656.2:n.341G>A
ENST00000651132.1:c.562G>A ENSP00000498322.1:p.Asp188Asn
ENST00000651676.1:c.562G>A ENSP00000498699.1:p.Asp188Asn
ENST00000651994.1:c.*70-4742G>A ENSP00000498310.1:n.*70-4742G>A
ENST00000652718.1:c.394G>A ENSP00000498866.1:p.Asp132Asn
ENST00000360215.2:c.562G>A ENSP00000353346.1:p.Asp188Asn
ENST00000496656.1:n.341G>A
NM_182548.3:c.562G>A NP_872354.1:p.Asp188Asn
XM_011514403.1:c.562G>A XP_011512705.1:p.Asp188Asn
NM_182548.4:c.562G>A MANE Select NP_872354.1:p.Asp188Asn
Search 100 bp 5'
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