Canonical Allele Identifier: CA566495852

Gene: LHFPL5

Linked Data

• dbSNP Id: rs1383216466
• gnomAD v2: 6-35791479-T-G
• gnomAD v3: 6-35823702-T-G
• gnomAD v4: 6-35823702-T-G
• MyVariant Identifiers: chr6:g.35791479T>G (hg19) ; chr6:g.35823702T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35823702T>G , CM000668.2:g.35823702T>G	GRCh38
NC_000006.11:g.35791479T>G , CM000668.1:g.35791479T>G	GRCh37
NC_000006.10:g.35899457T>G	NCBI36
NG_012184.1:g.23409T>G
NG_012184.2:g.23409T>G
NG_012184.3:g.31497T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360215.3:c.*737T>G MANE Select	ENSP00000353346.1:n.*737T>G
ENST00000496656.2:n.578+3882T>G
ENST00000651132.1:c.*737T>G	ENSP00000498322.1:n.*737T>G
ENST00000651676.1:c.*16+4239T>G	ENSP00000498699.1:n.*16+4239T>G
ENST00000651994.1:c.*817T>G	ENSP00000498310.1:n.*817T>G
ENST00000652718.1:c.508+4239T>G	ENSP00000498866.1:n.508+4239T>G
ENST00000360215.2:c.*737T>G	ENSP00000353346.1:n.*737T>G
ENST00000496656.1:n.812+3882T>G
NM_182548.3:c.*737T>G	NP_872354.1:n.*737T>G
NM_182548.4:c.*737T>G MANE Select	NP_872354.1:n.*737T>G