Canonical Allele Identifier: CA248850360

Gene: LHFPL6

Linked Data

• dbSNP Id: rs368699077
• gnomAD v3: 13-39329125-C-T
• gnomAD v4: 13-39329125-C-T
• MyVariant Identifiers: chr13:g.39903262C>T (hg19) ; chr13:g.39329125C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.39329125C>T , CM000675.2:g.39329125C>T	GRCh38
NC_000013.10:g.39903262C>T , CM000675.1:g.39903262C>T	GRCh37
NC_000013.9:g.38801262C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648377.1:c.*82+14729G>A	ENSP00000496801.1:n.*82+14729G>A
XR_001749845.1:n.1449+7146G>A