Canonical Allele Identifier: CA248850346
Gene: LHFPL6 HGNC NCBI

Linked Data

dbSNP Id: rs546731715
gnomAD v3: 13-39328994-G-A
gnomAD v4: 13-39328994-G-A
MyVariant Identifiers: chr13:g.39903131G>A (hg19) chr13:g.39328994G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.39328994G>A , CM000675.2:g.39328994G>A GRCh38
NC_000013.10:g.39903131G>A , CM000675.1:g.39903131G>A GRCh37
NC_000013.9:g.38801131G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000648377.1:c.*82+14860C>T ENSP00000496801.1:n.*82+14860C>T
XR_001749845.1:n.1449+7277C>T
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