Canonical Allele Identifier: CA363785209
Gene: LHFPL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1331317
ClinVar RCV Id: RCV001806662 RCV003394262
dbSNP Id: rs756967336
gnomAD v2: 6-35773842-G-A
gnomAD v3: 6-35806065-G-A
gnomAD v4: 6-35806065-G-A
MyVariant Identifiers: chr6:g.35773842G>A (hg19) chr6:g.35806065G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35806065G>A , CM000668.2:g.35806065G>A GRCh38
NC_000006.11:g.35773842G>A , CM000668.1:g.35773842G>A GRCh37
NC_000006.10:g.35881820G>A NCBI36
NG_012184.1:g.5772G>A
NG_012184.2:g.5772G>A
NG_012184.3:g.13860G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360215.3:c.395G>A MANE Select ENSP00000353346.1:p.Trp132Ter
ENST00000651132.1:c.395G>A ENSP00000498322.1:p.Trp132Ter
ENST00000651676.1:c.395G>A ENSP00000498699.1:p.Trp132Ter
ENST00000651994.1:c.395G>A ENSP00000498310.1:p.Trp132Ter
ENST00000652718.1:c.227G>A ENSP00000498866.1:p.Trp76Ter
ENST00000360215.2:c.395G>A ENSP00000353346.1:p.Trp132Ter
NM_182548.3:c.395G>A NP_872354.1:p.Trp132Ter
XM_011514403.1:c.395G>A XP_011512705.1:p.Trp132Ter
NM_182548.4:c.395G>A MANE Select NP_872354.1:p.Trp132Ter
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