Canonical Allele Identifier: CA248850356

Gene: LHFPL6

Linked Data

• dbSNP Id: rs982980242
• gnomAD v3: 13-39329089-A-G
• gnomAD v4: 13-39329089-A-G
• MyVariant Identifiers: chr13:g.39903226A>G (hg19) ; chr13:g.39329089A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.39329089A>G , CM000675.2:g.39329089A>G	GRCh38
NC_000013.10:g.39903226A>G , CM000675.1:g.39903226A>G	GRCh37
NC_000013.9:g.38801226A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648377.1:c.*82+14765T>C	ENSP00000496801.1:n.*82+14765T>C
XR_001749845.1:n.1449+7182T>C