Canonical Allele Identifier: CA251916

Gene: LHFPL5

Linked Data

• ClinVar Variation Id: 1697
• ClinVar RCV Id: RCV000001765 ; RCV003964787
• dbSNP Id: rs104893976
• ExAC: 6:35782404 C / T
• gnomAD v2: 6-35782404-C-T
• gnomAD v3: 6-35814627-C-T
• gnomAD v4: 6-35814627-C-T
• MyVariant Identifiers: chr6:g.35782404C>T (hg19) ; chr6:g.35814627C>T (hg38)
• PubMed: PMID:16752389

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35814627C>T , CM000668.2:g.35814627C>T	GRCh38
NC_000006.11:g.35782404C>T , CM000668.1:g.35782404C>T	GRCh37
NC_000006.10:g.35890382C>T	NCBI36
NG_012184.1:g.14334C>T
NG_012184.2:g.14334C>T
NG_012184.3:g.22422C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000360215.3:c.494C>T MANE Select	ENSP00000353346.1:p.Thr165Met
ENST00000496656.2:n.273C>T
ENST00000651132.1:c.494C>T	ENSP00000498322.1:p.Thr165Met
ENST00000651676.1:c.494C>T	ENSP00000498699.1:p.Thr165Met
ENST00000651994.1:c.*70-4810C>T	ENSP00000498310.1:n.*70-4810C>T
ENST00000652718.1:c.326C>T	ENSP00000498866.1:p.Thr109Met
ENST00000360215.2:c.494C>T	ENSP00000353346.1:p.Thr165Met
ENST00000496656.1:n.273C>T
NM_182548.3:c.494C>T	NP_872354.1:p.Thr165Met
XM_011514403.1:c.494C>T	XP_011512705.1:p.Thr165Met
NM_182548.4:c.494C>T MANE Select	NP_872354.1:p.Thr165Met