Canonical Allele Identifier: CA363785735

Gene: LHFPL5

Linked Data

• ClinVar Variation Id: 1503656
• ClinVar RCV Id: RCV002045484
• dbSNP Id: rs2151070785
• gnomAD v4: 6-35814563-G-A
• MyVariant Identifiers: chr6:g.35782340G>A (hg19) ; chr6:g.35814563G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35814563G>A , CM000668.2:g.35814563G>A	GRCh38
NC_000006.11:g.35782340G>A , CM000668.1:g.35782340G>A	GRCh37
NC_000006.10:g.35890318G>A	NCBI36
NG_012184.1:g.14270G>A
NG_012184.2:g.14270G>A
NG_012184.3:g.22358G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360215.3:c.430G>A MANE Select	ENSP00000353346.1:p.Gly144Ser
ENST00000496656.2:n.209G>A
ENST00000651132.1:c.430G>A	ENSP00000498322.1:p.Gly144Ser
ENST00000651676.1:c.430G>A	ENSP00000498699.1:p.Gly144Ser
ENST00000651994.1:c.*70-4874G>A	ENSP00000498310.1:n.*70-4874G>A
ENST00000652718.1:c.262G>A	ENSP00000498866.1:p.Gly88Ser
ENST00000360215.2:c.430G>A	ENSP00000353346.1:p.Gly144Ser
ENST00000496656.1:n.209G>A
NM_182548.3:c.430G>A	NP_872354.1:p.Gly144Ser
XM_011514403.1:c.430G>A	XP_011512705.1:p.Gly144Ser
NM_182548.4:c.430G>A MANE Select	NP_872354.1:p.Gly144Ser