Canonical Allele Identifier: CA248850364

Gene: LHFPL6

Linked Data

• dbSNP Id: rs79733196
• gnomAD v2: 13-39903283-G-C
• gnomAD v3: 13-39329146-G-C
• gnomAD v4: 13-39329146-G-C
• MyVariant Identifiers: chr13:g.39903283G>C (hg19) ; chr13:g.39329146G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.39329146G>C , CM000675.2:g.39329146G>C	GRCh38
NC_000013.10:g.39903283G>C , CM000675.1:g.39903283G>C	GRCh37
NC_000013.9:g.38801283G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648377.1:c.*82+14708C>G	ENSP00000496801.1:n.*82+14708C>G
XR_001749845.1:n.1449+7125C>G