Canonical Allele Identifier: CA450125120

Gene: LHFPL5

Linked Data

• dbSNP Id: rs1444002518
• gnomAD v2: 6-35782372-A-G
• gnomAD v3: 6-35814595-A-G
• gnomAD v4: 6-35814595-A-G
• MyVariant Identifiers: chr6:g.35782372A>G (hg19) ; chr6:g.35814595A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35814595A>G , CM000668.2:g.35814595A>G	GRCh38
NC_000006.11:g.35782372A>G , CM000668.1:g.35782372A>G	GRCh37
NC_000006.10:g.35890350A>G	NCBI36
NG_012184.1:g.14302A>G
NG_012184.2:g.14302A>G
NG_012184.3:g.22390A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360215.3:c.462A>G MANE Select	ENSP00000353346.1:p.Ser154=
ENST00000496656.2:n.241A>G
ENST00000651132.1:c.462A>G	ENSP00000498322.1:p.Ser154=
ENST00000651676.1:c.462A>G	ENSP00000498699.1:p.Ser154=
ENST00000651994.1:c.*70-4842A>G	ENSP00000498310.1:n.*70-4842A>G
ENST00000652718.1:c.294A>G	ENSP00000498866.1:p.Ser98=
ENST00000360215.2:c.462A>G	ENSP00000353346.1:p.Ser154=
ENST00000496656.1:n.241A>G
NM_182548.3:c.462A>G	NP_872354.1:p.Ser154=
XM_011514403.1:c.462A>G	XP_011512705.1:p.Ser154=
NM_182548.4:c.462A>G MANE Select	NP_872354.1:p.Ser154=