Canonical Allele Identifier: CA1087852146

Gene: LHFPL5

Linked Data

• dbSNP Id: rs1768919276
• gnomAD v3: 6-35823582-G-A
• gnomAD v4: 6-35823582-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35823582G>A , CM000668.2:g.35823582G>A	GRCh38
NC_000006.11:g.35791359G>A , CM000668.1:g.35791359G>A	GRCh37
NC_000006.10:g.35899337G>A	NCBI36
NG_012184.1:g.23289G>A
NG_012184.2:g.23289G>A
NG_012184.3:g.31377G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360215.3:c.*617G>A MANE Select	ENSP00000353346.1:n.*617G>A
ENST00000496656.2:n.578+3762G>A
ENST00000651132.1:c.*617G>A	ENSP00000498322.1:n.*617G>A
ENST00000651676.1:c.*16+4119G>A	ENSP00000498699.1:n.*16+4119G>A
ENST00000651994.1:c.*697G>A	ENSP00000498310.1:n.*697G>A
ENST00000652718.1:c.508+4119G>A	ENSP00000498866.1:n.508+4119G>A
ENST00000360215.2:c.*617G>A	ENSP00000353346.1:n.*617G>A
ENST00000496656.1:n.812+3762G>A
NM_182548.3:c.*617G>A	NP_872354.1:n.*617G>A
NM_182548.4:c.*617G>A MANE Select	NP_872354.1:n.*617G>A