Canonical Allele Identifier: CA697948623

Gene: LHFPL6

Linked Data

• dbSNP Id: rs1446601330
• gnomAD v3: 13-39329031-T-G
• gnomAD v4: 13-39329031-T-G
• MyVariant Identifiers: chr13:g.39903168T>G (hg19) ; chr13:g.39329031T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.39329031T>G , CM000675.2:g.39329031T>G	GRCh38
NC_000013.10:g.39903168T>G , CM000675.1:g.39903168T>G	GRCh37
NC_000013.9:g.38801168T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648377.1:c.*82+14823A>C	ENSP00000496801.1:n.*82+14823A>C
XR_001749845.1:n.1449+7240A>C