Canonical Allele Identifier: CA248850348

Gene: LHFPL6

Linked Data

• dbSNP Id: rs78375425
• gnomAD v2: 13-39903144-G-A
• gnomAD v3: 13-39329007-G-A
• gnomAD v4: 13-39329007-G-A
• MyVariant Identifiers: chr13:g.39903144G>A (hg19) ; chr13:g.39329007G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.39329007G>A , CM000675.2:g.39329007G>A	GRCh38
NC_000013.10:g.39903144G>A , CM000675.1:g.39903144G>A	GRCh37
NC_000013.9:g.38801144G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000648377.1:c.*82+14847C>T	ENSP00000496801.1:n.*82+14847C>T
XR_001749845.1:n.1449+7264C>T