Canonical Allele Identifier: CA3774470

Gene: LHFPL5

Linked Data

• dbSNP Id: rs777801478
• ExAC: 6:35782609 G / T
• gnomAD v2: 6-35782609-G-T
• gnomAD v4: 6-35814832-G-T
• MyVariant Identifiers: chr6:g.35782609G>T (hg19) ; chr6:g.35814832G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35814832G>T , CM000668.2:g.35814832G>T	GRCh38
NC_000006.11:g.35782609G>T , CM000668.1:g.35782609G>T	GRCh37
NC_000006.10:g.35890587G>T	NCBI36
NG_012184.1:g.14539G>T
NG_012184.2:g.14539G>T
NG_012184.3:g.22627G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360215.3:c.649+50G>T MANE Select	ENSP00000353346.1:n.649+50G>T
ENST00000496656.2:n.428+50G>T
ENST00000651132.1:c.649+50G>T	ENSP00000498322.1:n.649+50G>T
ENST00000651676.1:c.649+50G>T	ENSP00000498699.1:n.649+50G>T
ENST00000651994.1:c.*70-4605G>T	ENSP00000498310.1:n.*70-4605G>T
ENST00000652718.1:c.481+50G>T	ENSP00000498866.1:n.481+50G>T
ENST00000360215.2:c.649+50G>T	ENSP00000353346.1:n.649+50G>T
ENST00000496656.1:n.428+50G>T
NM_182548.3:c.649+50G>T	NP_872354.1:n.649+50G>T
XM_011514403.1:c.649+50G>T	XP_011512705.1:n.649+50G>T
NM_182548.4:c.649+50G>T MANE Select	NP_872354.1:n.649+50G>T