Canonical Allele Identifier: CA3774339

Gene: LHFPL5

Linked Data

• dbSNP Id: rs375084955
• ExAC: 6:35773559 G / A
• gnomAD v2: 6-35773559-G-A
• gnomAD v4: 6-35805782-G-A
• COSMIC: COSM1697049
• MyVariant Identifiers: chr6:g.35773559G>A (hg19) ; chr6:g.35805782G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35805782G>A , CM000668.2:g.35805782G>A	GRCh38
NC_000006.11:g.35773559G>A , CM000668.1:g.35773559G>A	GRCh37
NC_000006.10:g.35881537G>A	NCBI36
NG_012184.1:g.5489G>A
NG_012184.2:g.5489G>A
NG_012184.3:g.13577G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360215.3:c.112G>A MANE Select	ENSP00000353346.1:p.Val38Ile
ENST00000651132.1:c.112G>A	ENSP00000498322.1:p.Val38Ile
ENST00000651676.1:c.112G>A	ENSP00000498699.1:p.Val38Ile
ENST00000651994.1:c.112G>A	ENSP00000498310.1:p.Val38Ile
ENST00000360215.2:c.112G>A	ENSP00000353346.1:p.Val38Ile
NM_182548.3:c.112G>A	NP_872354.1:p.Val38Ile
XM_011514403.1:c.112G>A	XP_011512705.1:p.Val38Ile
NM_182548.4:c.112G>A MANE Select	NP_872354.1:p.Val38Ile