Canonical Allele Identifier: CA248850343
Gene: LHFPL6 HGNC NCBI

Linked Data

dbSNP Id: rs952751659
gnomAD v2: 13-39903112-G-A
gnomAD v3: 13-39328975-G-A
gnomAD v4: 13-39328975-G-A
MyVariant Identifiers: chr13:g.39903112G>A (hg19) chr13:g.39328975G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.39328975G>A , CM000675.2:g.39328975G>A GRCh38
NC_000013.10:g.39903112G>A , CM000675.1:g.39903112G>A GRCh37
NC_000013.9:g.38801112G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000648377.1:c.*82+14879C>T ENSP00000496801.1:n.*82+14879C>T
XR_001749845.1:n.1449+7296C>T
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