Canonical Allele Identifier: CA2678434175

Gene: LHFPL5

Linked Data

• dbSNP Id: rs2151073123
• gnomAD v4: 6-35823657-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35823657C>A , CM000668.2:g.35823657C>A	GRCh38
NC_000006.11:g.35791434C>A , CM000668.1:g.35791434C>A	GRCh37
NC_000006.10:g.35899412C>A	NCBI36
NG_012184.1:g.23364C>A
NG_012184.2:g.23364C>A
NG_012184.3:g.31452C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360215.3:c.*692C>A MANE Select	ENSP00000353346.1:n.*692C>A
ENST00000496656.2:n.578+3837C>A
ENST00000651132.1:c.*692C>A	ENSP00000498322.1:n.*692C>A
ENST00000651676.1:c.*16+4194C>A	ENSP00000498699.1:n.*16+4194C>A
ENST00000651994.1:c.*772C>A	ENSP00000498310.1:n.*772C>A
ENST00000652718.1:c.508+4194C>A	ENSP00000498866.1:n.508+4194C>A
ENST00000360215.2:c.*692C>A	ENSP00000353346.1:n.*692C>A
ENST00000496656.1:n.812+3837C>A
NM_182548.3:c.*692C>A	NP_872354.1:n.*692C>A
NM_182548.4:c.*692C>A MANE Select	NP_872354.1:n.*692C>A