Canonical Allele Identifier: CA3774310
Gene: LHFPL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 356487
ClinVar RCV Id: RCV000390041
dbSNP Id: rs375993440
ExAC: 6:35773418 G / C
gnomAD v2: 6-35773418-G-C
gnomAD v3: 6-35805641-G-C
gnomAD v4: 6-35805641-G-C
MyVariant Identifiers: chr6:g.35773418G>C (hg19) chr6:g.35805641G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35805641G>C , CM000668.2:g.35805641G>C GRCh38
NC_000006.11:g.35773418G>C , CM000668.1:g.35773418G>C GRCh37
NC_000006.10:g.35881396G>C NCBI36
NG_012184.1:g.5348G>C
NG_012184.2:g.5348G>C
NG_012184.3:g.13436G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360215.3:c.-30G>C MANE Select ENSP00000353346.1:n.-30G>C
ENST00000651132.1:c.-30G>C ENSP00000498322.1:n.-30G>C
ENST00000651676.1:c.-30G>C ENSP00000498699.1:n.-30G>C
ENST00000651994.1:c.-30G>C ENSP00000498310.1:n.-30G>C
ENST00000360215.2:c.-30G>C ENSP00000353346.1:n.-30G>C
NM_182548.3:c.-30G>C NP_872354.1:n.-30G>C
XM_011514403.1:c.-30G>C XP_011512705.1:n.-30G>C
NM_182548.4:c.-30G>C MANE Select NP_872354.1:n.-30G>C
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