Canonical Allele Identifier: CA137307502

Gene: LHFPL5

Linked Data

• dbSNP Id: rs1033922968
• gnomAD v4: 6-35805865-C-T
• MyVariant Identifiers: chr6:g.35773642C>T (hg19) ; chr6:g.35805865C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35805865C>T , CM000668.2:g.35805865C>T	GRCh38
NC_000006.11:g.35773642C>T , CM000668.1:g.35773642C>T	GRCh37
NC_000006.10:g.35881620C>T	NCBI36
NG_012184.1:g.5572C>T
NG_012184.2:g.5572C>T
NG_012184.3:g.13660C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360215.3:c.195C>T MANE Select	ENSP00000353346.1:p.Phe65=
ENST00000651132.1:c.195C>T	ENSP00000498322.1:p.Phe65=
ENST00000651676.1:c.195C>T	ENSP00000498699.1:p.Phe65=
ENST00000651994.1:c.195C>T	ENSP00000498310.1:p.Phe65=
ENST00000652718.1:c.27C>T	ENSP00000498866.1:p.Phe9=
ENST00000360215.2:c.195C>T	ENSP00000353346.1:p.Phe65=
NM_182548.3:c.195C>T	NP_872354.1:p.Phe65=
XM_011514403.1:c.195C>T	XP_011512705.1:p.Phe65=
NM_182548.4:c.195C>T MANE Select	NP_872354.1:p.Phe65=