Canonical Allele Identifier: CA137313671

Gene: LHFPL5

Linked Data

• dbSNP Id: rs1000026751
• gnomAD v2: 6-35791180-A-G
• gnomAD v3: 6-35823403-A-G
• gnomAD v4: 6-35823403-A-G
• MyVariant Identifiers: chr6:g.35791180A>G (hg19) ; chr6:g.35823403A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35823403A>G , CM000668.2:g.35823403A>G	GRCh38
NC_000006.11:g.35791180A>G , CM000668.1:g.35791180A>G	GRCh37
NC_000006.10:g.35899158A>G	NCBI36
NG_012184.1:g.23110A>G
NG_012184.2:g.23110A>G
NG_012184.3:g.31198A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360215.3:c.*438A>G MANE Select	ENSP00000353346.1:n.*438A>G
ENST00000496656.2:n.578+3583A>G
ENST00000651132.1:c.*438A>G	ENSP00000498322.1:n.*438A>G
ENST00000651676.1:c.*16+3940A>G	ENSP00000498699.1:n.*16+3940A>G
ENST00000651994.1:c.*518A>G	ENSP00000498310.1:n.*518A>G
ENST00000652718.1:c.508+3940A>G	ENSP00000498866.1:n.508+3940A>G
ENST00000360215.2:c.*438A>G	ENSP00000353346.1:n.*438A>G
ENST00000496656.1:n.812+3583A>G
NM_182548.3:c.*438A>G	NP_872354.1:n.*438A>G
NM_182548.4:c.*438A>G MANE Select	NP_872354.1:n.*438A>G