Canonical Allele Identifier: CA137310637

Gene: LHFPL5

Linked Data

• dbSNP Id: rs200209955
• gnomAD v3: 6-35814569-C-G
• gnomAD v4: 6-35814569-C-G
• MyVariant Identifiers: chr6:g.35782346C>G (hg19) ; chr6:g.35814569C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35814569C>G , CM000668.2:g.35814569C>G	GRCh38
NC_000006.11:g.35782346C>G , CM000668.1:g.35782346C>G	GRCh37
NC_000006.10:g.35890324C>G	NCBI36
NG_012184.1:g.14276C>G
NG_012184.2:g.14276C>G
NG_012184.3:g.22364C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360215.3:c.436C>G MANE Select	ENSP00000353346.1:p.Leu146Val
ENST00000496656.2:n.215C>G
ENST00000651132.1:c.436C>G	ENSP00000498322.1:p.Leu146Val
ENST00000651676.1:c.436C>G	ENSP00000498699.1:p.Leu146Val
ENST00000651994.1:c.*70-4868C>G	ENSP00000498310.1:n.*70-4868C>G
ENST00000652718.1:c.268C>G	ENSP00000498866.1:p.Leu90Val
ENST00000360215.2:c.436C>G	ENSP00000353346.1:p.Leu146Val
ENST00000496656.1:n.215C>G
NM_182548.3:c.436C>G	NP_872354.1:p.Leu146Val
XM_011514403.1:c.436C>G	XP_011512705.1:p.Leu146Val
NM_182548.4:c.436C>G MANE Select	NP_872354.1:p.Leu146Val