Canonical Allele Identifier: CA10621997

Gene: LHFPL5

Linked Data

• ClinVar Variation Id: 356507
• ClinVar RCV Id: RCV000314322
• dbSNP Id: rs866657668
• gnomAD v2: 6-35791199-C-T
• gnomAD v3: 6-35823422-C-T
• gnomAD v4: 6-35823422-C-T
• MyVariant Identifiers: chr6:g.35791199C>T (hg19) ; chr6:g.35791199_35791203delinsTACAT (hg19) ; chr6:g.35823422C>T (hg38) ; chr6:g.35823422_35823426delinsTACAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35823422C>T , CM000668.2:g.35823422C>T	GRCh38
NC_000006.11:g.35791199C>T , CM000668.1:g.35791199C>T	GRCh37
NC_000006.10:g.35899177C>T	NCBI36
NG_012184.1:g.23129C>T
NG_012184.2:g.23129C>T
NG_012184.3:g.31217C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000360215.3:c.*457C>T MANE Select	ENSP00000353346.1:n.*457C>T
ENST00000496656.2:n.578+3602C>T
ENST00000651132.1:c.*457C>T	ENSP00000498322.1:n.*457C>T
ENST00000651676.1:c.*16+3959C>T	ENSP00000498699.1:n.*16+3959C>T
ENST00000651994.1:c.*537C>T	ENSP00000498310.1:n.*537C>T
ENST00000652718.1:c.508+3959C>T	ENSP00000498866.1:n.508+3959C>T
ENST00000360215.2:c.*457C>T	ENSP00000353346.1:n.*457C>T
ENST00000496656.1:n.812+3602C>T
NM_182548.3:c.*457C>T	NP_872354.1:n.*457C>T
NM_182548.4:c.*457C>T MANE Select	NP_872354.1:n.*457C>T