Canonical Allele Identifier: CA3774433

Gene: LHFPL5

Linked Data

• ClinVar Variation Id: 227501
• ClinVar RCV Id: RCV000223212
• dbSNP Id: rs557741915
• ExAC: 6:35782435 C / A
• gnomAD v2: 6-35782435-C-A
• gnomAD v4: 6-35814658-C-A
• MyVariant Identifiers: chr6:g.35782435C>A (hg19) ; chr6:g.35814658C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35814658C>A , CM000668.2:g.35814658C>A	GRCh38
NC_000006.11:g.35782435C>A , CM000668.1:g.35782435C>A	GRCh37
NC_000006.10:g.35890413C>A	NCBI36
NG_012184.1:g.14365C>A
NG_012184.2:g.14365C>A
NG_012184.3:g.22453C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360215.3:c.525C>A MANE Select	ENSP00000353346.1:p.Ile175=
ENST00000496656.2:n.304C>A
ENST00000651132.1:c.525C>A	ENSP00000498322.1:p.Ile175=
ENST00000651676.1:c.525C>A	ENSP00000498699.1:p.Ile175=
ENST00000651994.1:c.*70-4779C>A	ENSP00000498310.1:n.*70-4779C>A
ENST00000652718.1:c.357C>A	ENSP00000498866.1:p.Ile119=
ENST00000360215.2:c.525C>A	ENSP00000353346.1:p.Ile175=
ENST00000496656.1:n.304C>A
NM_182548.3:c.525C>A	NP_872354.1:p.Ile175=
XM_011514403.1:c.525C>A	XP_011512705.1:p.Ile175=
NM_182548.4:c.525C>A MANE Select	NP_872354.1:p.Ile175=