Canonical Allele Identifier: CA10626578

Gene: LHFPL5

Linked Data

• ClinVar Variation Id: 356551
• ClinVar RCV Id: RCV000287259
• dbSNP Id: rs545462913
• gnomAD v2: 6-35791569-G-T
• gnomAD v3: 6-35823792-G-T
• gnomAD v4: 6-35823792-G-T
• MyVariant Identifiers: chr6:g.35791569G>T (hg19) ; chr6:g.35823792G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35823792G>T , CM000668.2:g.35823792G>T	GRCh38
NC_000006.11:g.35791569G>T , CM000668.1:g.35791569G>T	GRCh37
NC_000006.10:g.35899547G>T	NCBI36
NG_012184.1:g.23499G>T
NG_012184.2:g.23499G>T
NG_012184.3:g.31587G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360215.3:c.*827G>T MANE Select	ENSP00000353346.1:n.*827G>T
ENST00000496656.2:n.578+3972G>T
ENST00000651132.1:c.*827G>T	ENSP00000498322.1:n.*827G>T
ENST00000651676.1:c.*16+4329G>T	ENSP00000498699.1:n.*16+4329G>T
ENST00000651994.1:c.*907G>T	ENSP00000498310.1:n.*907G>T
ENST00000652718.1:c.508+4329G>T	ENSP00000498866.1:n.508+4329G>T
ENST00000360215.2:c.*827G>T	ENSP00000353346.1:n.*827G>T
ENST00000496656.1:n.812+3972G>T
NM_182548.3:c.*827G>T	NP_872354.1:n.*827G>T
NM_182548.4:c.*827G>T MANE Select	NP_872354.1:n.*827G>T