Canonical Allele Identifier: CA363786123

Gene: LHFPL5

Linked Data

• ClinVar Variation Id: 1502436
• ClinVar RCV Id: RCV002045170
• dbSNP Id: rs1161698428
• gnomAD v2: 6-35782466-A-G
• gnomAD v3: 6-35814689-A-G
• gnomAD v4: 6-35814689-A-G
• MyVariant Identifiers: chr6:g.35782466A>G (hg19) ; chr6:g.35814689A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35814689A>G , CM000668.2:g.35814689A>G	GRCh38
NC_000006.11:g.35782466A>G , CM000668.1:g.35782466A>G	GRCh37
NC_000006.10:g.35890444A>G	NCBI36
NG_012184.1:g.14396A>G
NG_012184.2:g.14396A>G
NG_012184.3:g.22484A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360215.3:c.556A>G MANE Select	ENSP00000353346.1:p.Ile186Val
ENST00000496656.2:n.335A>G
ENST00000651132.1:c.556A>G	ENSP00000498322.1:p.Ile186Val
ENST00000651676.1:c.556A>G	ENSP00000498699.1:p.Ile186Val
ENST00000651994.1:c.*70-4748A>G	ENSP00000498310.1:n.*70-4748A>G
ENST00000652718.1:c.388A>G	ENSP00000498866.1:p.Ile130Val
ENST00000360215.2:c.556A>G	ENSP00000353346.1:p.Ile186Val
ENST00000496656.1:n.335A>G
NM_182548.3:c.556A>G	NP_872354.1:p.Ile186Val
XM_011514403.1:c.556A>G	XP_011512705.1:p.Ile186Val
NM_182548.4:c.556A>G MANE Select	NP_872354.1:p.Ile186Val