Canonical Allele Identifier: CA609313662
Gene: LHFPL6 HGNC NCBI

Linked Data

dbSNP Id: rs1482282617
gnomAD v2: 13-39903290-C-T
gnomAD v3: 13-39329153-C-T
gnomAD v4: 13-39329153-C-T
MyVariant Identifiers: chr13:g.39903290C>T (hg19) chr13:g.39329153C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.39329153C>T , CM000675.2:g.39329153C>T GRCh38
NC_000013.10:g.39903290C>T , CM000675.1:g.39903290C>T GRCh37
NC_000013.9:g.38801290C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000648377.1:c.*82+14701G>A ENSP00000496801.1:n.*82+14701G>A
XR_001749845.1:n.1449+7118G>A
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