Canonical Allele Identifier: CA3774424

Gene: LHFPL5

Linked Data

• ClinVar Variation Id: 228801
• ClinVar RCV Id: RCV000223355
• dbSNP Id: rs755791421
• ExAC: 6:35782385 C / T
• gnomAD v2: 6-35782385-C-T
• gnomAD v3: 6-35814608-C-T
• gnomAD v4: 6-35814608-C-T
• MyVariant Identifiers: chr6:g.35782385C>T (hg19) ; chr6:g.35814608C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35814608C>T , CM000668.2:g.35814608C>T	GRCh38
NC_000006.11:g.35782385C>T , CM000668.1:g.35782385C>T	GRCh37
NC_000006.10:g.35890363C>T	NCBI36
NG_012184.1:g.14315C>T
NG_012184.2:g.14315C>T
NG_012184.3:g.22403C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360215.3:c.475C>T MANE Select	ENSP00000353346.1:p.Arg159Cys
ENST00000496656.2:n.254C>T
ENST00000651132.1:c.475C>T	ENSP00000498322.1:p.Arg159Cys
ENST00000651676.1:c.475C>T	ENSP00000498699.1:p.Arg159Cys
ENST00000651994.1:c.*70-4829C>T	ENSP00000498310.1:n.*70-4829C>T
ENST00000652718.1:c.307C>T	ENSP00000498866.1:p.Arg103Cys
ENST00000360215.2:c.475C>T	ENSP00000353346.1:p.Arg159Cys
ENST00000496656.1:n.254C>T
NM_182548.3:c.475C>T	NP_872354.1:p.Arg159Cys
XM_011514403.1:c.475C>T	XP_011512705.1:p.Arg159Cys
NM_182548.4:c.475C>T MANE Select	NP_872354.1:p.Arg159Cys