Canonical Allele Identifier: CA137313992

Gene: LHFPL5

Linked Data

• dbSNP Id: rs140199454
• gnomAD v2: 6-35791684-G-A
• gnomAD v3: 6-35823907-G-A
• gnomAD v4: 6-35823907-G-A
• MyVariant Identifiers: chr6:g.35791684G>A (hg19) ; chr6:g.35823907G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35823907G>A , CM000668.2:g.35823907G>A	GRCh38
NC_000006.11:g.35791684G>A , CM000668.1:g.35791684G>A	GRCh37
NC_000006.10:g.35899662G>A	NCBI36
NG_012184.1:g.23614G>A
NG_012184.2:g.23614G>A
NG_012184.3:g.31702G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360215.3:c.*942G>A MANE Select	ENSP00000353346.1:n.*942G>A
ENST00000496656.2:n.578+4087G>A
ENST00000651132.1:c.*942G>A	ENSP00000498322.1:n.*942G>A
ENST00000651676.1:c.*16+4444G>A	ENSP00000498699.1:n.*16+4444G>A
ENST00000652718.1:c.508+4444G>A	ENSP00000498866.1:n.508+4444G>A
ENST00000360215.2:c.*942G>A	ENSP00000353346.1:n.*942G>A
ENST00000496656.1:n.812+4087G>A
NM_182548.3:c.*942G>A	NP_872354.1:n.*942G>A
NM_182548.4:c.*942G>A MANE Select	NP_872354.1:n.*942G>A