Canonical Allele Identifier: CA3774420

Gene: LHFPL5

Linked Data

• ClinVar Variation Id: 1352050
• ClinVar RCV Id: RCV002049371 ; RCV002545446
• dbSNP Id: rs147861688
• ExAC: 6:35782370 T / A
• gnomAD v2: 6-35782370-T-A
• gnomAD v3: 6-35814593-T-A
• gnomAD v4: 6-35814593-T-A
• MyVariant Identifiers: chr6:g.35782370T>A (hg19) ; chr6:g.35814593T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35814593T>A , CM000668.2:g.35814593T>A	GRCh38
NC_000006.11:g.35782370T>A , CM000668.1:g.35782370T>A	GRCh37
NC_000006.10:g.35890348T>A	NCBI36
NG_012184.1:g.14300T>A
NG_012184.2:g.14300T>A
NG_012184.3:g.22388T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360215.3:c.460T>A MANE Select	ENSP00000353346.1:p.Ser154Thr
ENST00000496656.2:n.239T>A
ENST00000651132.1:c.460T>A	ENSP00000498322.1:p.Ser154Thr
ENST00000651676.1:c.460T>A	ENSP00000498699.1:p.Ser154Thr
ENST00000651994.1:c.*70-4844T>A	ENSP00000498310.1:n.*70-4844T>A
ENST00000652718.1:c.292T>A	ENSP00000498866.1:p.Ser98Thr
ENST00000360215.2:c.460T>A	ENSP00000353346.1:p.Ser154Thr
ENST00000496656.1:n.239T>A
NM_182548.3:c.460T>A	NP_872354.1:p.Ser154Thr
XM_011514403.1:c.460T>A	XP_011512705.1:p.Ser154Thr
NM_182548.4:c.460T>A MANE Select	NP_872354.1:p.Ser154Thr