Canonical Allele Identifier: CA248850323

Gene: LHFPL6

Linked Data

• dbSNP Id: rs940995170
• gnomAD v3: 13-39328842-T-C
• gnomAD v4: 13-39328842-T-C
• MyVariant Identifiers: chr13:g.39902979T>C (hg19) ; chr13:g.39328842T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.39328842T>C , CM000675.2:g.39328842T>C	GRCh38
NC_000013.10:g.39902979T>C , CM000675.1:g.39902979T>C	GRCh37
NC_000013.9:g.38800979T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648377.1:c.*82+15012A>G	ENSP00000496801.1:n.*82+15012A>G
XR_001749845.1:n.1449+7429A>G