Canonical Allele Identifier: CA248850338
Gene: LHFPL6 HGNC NCBI

Linked Data

dbSNP Id: rs998699627
gnomAD v3: 13-39328940-G-A
gnomAD v4: 13-39328940-G-A
MyVariant Identifiers: chr13:g.39903077G>A (hg19) chr13:g.39328940G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.39328940G>A , CM000675.2:g.39328940G>A GRCh38
NC_000013.10:g.39903077G>A , CM000675.1:g.39903077G>A GRCh37
NC_000013.9:g.38801077G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000648377.1:c.*82+14914C>T ENSP00000496801.1:n.*82+14914C>T
XR_001749845.1:n.1449+7331C>T
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