Canonical Allele Identifier: CA1087852147

Gene: LHFPL5

Linked Data

• dbSNP Id: rs1768919478
• gnomAD v3: 6-35823595-T-G
• gnomAD v4: 6-35823595-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35823595T>G , CM000668.2:g.35823595T>G	GRCh38
NC_000006.11:g.35791372T>G , CM000668.1:g.35791372T>G	GRCh37
NC_000006.10:g.35899350T>G	NCBI36
NG_012184.1:g.23302T>G
NG_012184.2:g.23302T>G
NG_012184.3:g.31390T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360215.3:c.*630T>G MANE Select	ENSP00000353346.1:n.*630T>G
ENST00000496656.2:n.578+3775T>G
ENST00000651132.1:c.*630T>G	ENSP00000498322.1:n.*630T>G
ENST00000651676.1:c.*16+4132T>G	ENSP00000498699.1:n.*16+4132T>G
ENST00000651994.1:c.*710T>G	ENSP00000498310.1:n.*710T>G
ENST00000652718.1:c.508+4132T>G	ENSP00000498866.1:n.508+4132T>G
ENST00000360215.2:c.*630T>G	ENSP00000353346.1:n.*630T>G
ENST00000496656.1:n.812+3775T>G
NM_182548.3:c.*630T>G	NP_872354.1:n.*630T>G
NM_182548.4:c.*630T>G MANE Select	NP_872354.1:n.*630T>G