Canonical Allele Identifier: CA824259812

Gene: LHFPL5

Linked Data

• dbSNP Id: rs1220739499
• gnomAD v3: 6-35823757-C-A
• gnomAD v4: 6-35823757-C-A
• MyVariant Identifiers: chr6:g.35791534C>A (hg19) ; chr6:g.35823757C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35823757C>A , CM000668.2:g.35823757C>A	GRCh38
NC_000006.11:g.35791534C>A , CM000668.1:g.35791534C>A	GRCh37
NC_000006.10:g.35899512C>A	NCBI36
NG_012184.1:g.23464C>A
NG_012184.2:g.23464C>A
NG_012184.3:g.31552C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360215.3:c.*792C>A MANE Select	ENSP00000353346.1:n.*792C>A
ENST00000496656.2:n.578+3937C>A
ENST00000651132.1:c.*792C>A	ENSP00000498322.1:n.*792C>A
ENST00000651676.1:c.*16+4294C>A	ENSP00000498699.1:n.*16+4294C>A
ENST00000651994.1:c.*872C>A	ENSP00000498310.1:n.*872C>A
ENST00000652718.1:c.508+4294C>A	ENSP00000498866.1:n.508+4294C>A
ENST00000360215.2:c.*792C>A	ENSP00000353346.1:n.*792C>A
ENST00000496656.1:n.812+3937C>A
NM_182548.3:c.*792C>A	NP_872354.1:n.*792C>A
NM_182548.4:c.*792C>A MANE Select	NP_872354.1:n.*792C>A