Canonical Allele Identifier: CA3774431

Gene: LHFPL5

Linked Data

• dbSNP Id: rs770146406
• ExAC: 6:35782419 T / A
• gnomAD v2: 6-35782419-T-A
• gnomAD v3: 6-35814642-T-A
• gnomAD v4: 6-35814642-T-A
• MyVariant Identifiers: chr6:g.35782419T>A (hg19) ; chr6:g.35814642T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35814642T>A , CM000668.2:g.35814642T>A	GRCh38
NC_000006.11:g.35782419T>A , CM000668.1:g.35782419T>A	GRCh37
NC_000006.10:g.35890397T>A	NCBI36
NG_012184.1:g.14349T>A
NG_012184.2:g.14349T>A
NG_012184.3:g.22437T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360215.3:c.509T>A MANE Select	ENSP00000353346.1:p.Leu170Gln
ENST00000496656.2:n.288T>A
ENST00000651132.1:c.509T>A	ENSP00000498322.1:p.Leu170Gln
ENST00000651676.1:c.509T>A	ENSP00000498699.1:p.Leu170Gln
ENST00000651994.1:c.*70-4795T>A	ENSP00000498310.1:n.*70-4795T>A
ENST00000652718.1:c.341T>A	ENSP00000498866.1:p.Leu114Gln
ENST00000360215.2:c.509T>A	ENSP00000353346.1:p.Leu170Gln
ENST00000496656.1:n.288T>A
NM_182548.3:c.509T>A	NP_872354.1:p.Leu170Gln
XM_011514403.1:c.509T>A	XP_011512705.1:p.Leu170Gln
NM_182548.4:c.509T>A MANE Select	NP_872354.1:p.Leu170Gln