Canonical Allele Identifier: CA137313881
Gene: LHFPL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 905961
ClinVar RCV Id: RCV001154824
dbSNP Id: rs1039461994
gnomAD v2: 6-35791351-G-A
gnomAD v3: 6-35823574-G-A
gnomAD v4: 6-35823574-G-A
MyVariant Identifiers: chr6:g.35791351G>A (hg19) chr6:g.35823574G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35823574G>A , CM000668.2:g.35823574G>A GRCh38
NC_000006.11:g.35791351G>A , CM000668.1:g.35791351G>A GRCh37
NC_000006.10:g.35899329G>A NCBI36
NG_012184.1:g.23281G>A
NG_012184.2:g.23281G>A
NG_012184.3:g.31369G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000360215.3:c.*609G>A MANE Select ENSP00000353346.1:n.*609G>A
ENST00000496656.2:n.578+3754G>A
ENST00000651132.1:c.*609G>A ENSP00000498322.1:n.*609G>A
ENST00000651676.1:c.*16+4111G>A ENSP00000498699.1:n.*16+4111G>A
ENST00000651994.1:c.*689G>A ENSP00000498310.1:n.*689G>A
ENST00000652718.1:c.508+4111G>A ENSP00000498866.1:n.508+4111G>A
ENST00000360215.2:c.*609G>A ENSP00000353346.1:n.*609G>A
ENST00000496656.1:n.812+3754G>A
NM_182548.3:c.*609G>A NP_872354.1:n.*609G>A
NM_182548.4:c.*609G>A MANE Select NP_872354.1:n.*609G>A
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