Canonical Allele Identifier: CA1621068876
Gene: LHFPL5 HGNC NCBI

Linked Data

dbSNP Id: rs1581978174
gnomAD v4: 6-35823652-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35823652G>A , CM000668.2:g.35823652G>A GRCh38
NC_000006.11:g.35791429G>A , CM000668.1:g.35791429G>A GRCh37
NC_000006.10:g.35899407G>A NCBI36
NG_012184.1:g.23359G>A
NG_012184.2:g.23359G>A
NG_012184.3:g.31447G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360215.3:c.*687G>A MANE Select ENSP00000353346.1:n.*687G>A
ENST00000496656.2:n.578+3832G>A
ENST00000651132.1:c.*687G>A ENSP00000498322.1:n.*687G>A
ENST00000651676.1:c.*16+4189G>A ENSP00000498699.1:n.*16+4189G>A
ENST00000651994.1:c.*767G>A ENSP00000498310.1:n.*767G>A
ENST00000652718.1:c.508+4189G>A ENSP00000498866.1:n.508+4189G>A
ENST00000360215.2:c.*687G>A ENSP00000353346.1:n.*687G>A
ENST00000496656.1:n.812+3832G>A
NM_182548.3:c.*687G>A NP_872354.1:n.*687G>A
NM_182548.4:c.*687G>A MANE Select NP_872354.1:n.*687G>A
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