Canonical Allele Identifier: CA3774371

Gene: LHFPL5

Linked Data

• dbSNP Id: rs776141931
• ExAC: 6:35773737 C / A
• gnomAD v2: 6-35773737-C-A
• gnomAD v4: 6-35805960-C-A
• MyVariant Identifiers: chr6:g.35773737C>A (hg19) ; chr6:g.35805960C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35805960C>A , CM000668.2:g.35805960C>A	GRCh38
NC_000006.11:g.35773737C>A , CM000668.1:g.35773737C>A	GRCh37
NC_000006.10:g.35881715C>A	NCBI36
NG_012184.1:g.5667C>A
NG_012184.2:g.5667C>A
NG_012184.3:g.13755C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360215.3:c.290C>A MANE Select	ENSP00000353346.1:p.Ala97Asp
ENST00000651132.1:c.290C>A	ENSP00000498322.1:p.Ala97Asp
ENST00000651676.1:c.290C>A	ENSP00000498699.1:p.Ala97Asp
ENST00000651994.1:c.290C>A	ENSP00000498310.1:p.Ala97Asp
ENST00000652718.1:c.122C>A	ENSP00000498866.1:p.Ala41Asp
ENST00000360215.2:c.290C>A	ENSP00000353346.1:p.Ala97Asp
NM_182548.3:c.290C>A	NP_872354.1:p.Ala97Asp
XM_011514403.1:c.290C>A	XP_011512705.1:p.Ala97Asp
NM_182548.4:c.290C>A MANE Select	NP_872354.1:p.Ala97Asp