Canonical Allele Identifier: CA137313870

Gene: LHFPL5

Linked Data

• dbSNP Id: rs904225699
• gnomAD v2: 6-35791303-G-A
• gnomAD v3: 6-35823526-G-A
• gnomAD v4: 6-35823526-G-A
• MyVariant Identifiers: chr6:g.35791303G>A (hg19) ; chr6:g.35823526G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35823526G>A , CM000668.2:g.35823526G>A	GRCh38
NC_000006.11:g.35791303G>A , CM000668.1:g.35791303G>A	GRCh37
NC_000006.10:g.35899281G>A	NCBI36
NG_012184.1:g.23233G>A
NG_012184.2:g.23233G>A
NG_012184.3:g.31321G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360215.3:c.*561G>A MANE Select	ENSP00000353346.1:n.*561G>A
ENST00000496656.2:n.578+3706G>A
ENST00000651132.1:c.*561G>A	ENSP00000498322.1:n.*561G>A
ENST00000651676.1:c.*16+4063G>A	ENSP00000498699.1:n.*16+4063G>A
ENST00000651994.1:c.*641G>A	ENSP00000498310.1:n.*641G>A
ENST00000652718.1:c.508+4063G>A	ENSP00000498866.1:n.508+4063G>A
ENST00000360215.2:c.*561G>A	ENSP00000353346.1:n.*561G>A
ENST00000496656.1:n.812+3706G>A
NM_182548.3:c.*561G>A	NP_872354.1:n.*561G>A
NM_182548.4:c.*561G>A MANE Select	NP_872354.1:n.*561G>A