Canonical Allele Identifier: CA248850369
Gene: LHFPL6 HGNC NCBI

Linked Data

dbSNP Id: rs148891342
gnomAD v2: 13-39903317-G-T
gnomAD v3: 13-39329180-G-T
gnomAD v4: 13-39329180-G-T
MyVariant Identifiers: chr13:g.39903317G>T (hg19) chr13:g.39329180G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.39329180G>T , CM000675.2:g.39329180G>T GRCh38
NC_000013.10:g.39903317G>T , CM000675.1:g.39903317G>T GRCh37
NC_000013.9:g.38801317G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000648377.1:c.*82+14674C>A ENSP00000496801.1:n.*82+14674C>A
XR_001749845.1:n.1449+7091C>A
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