Canonical Allele Identifier: CA3774352
Gene: LHFPL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1398793
ClinVar RCV Id: RCV001893632 RCV003382696
dbSNP Id: rs759519282
ExAC: 6:35773634 G / A
gnomAD v2: 6-35773634-G-A
gnomAD v4: 6-35805857-G-A
MyVariant Identifiers: chr6:g.35773634G>A (hg19) chr6:g.35805857G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35805857G>A , CM000668.2:g.35805857G>A GRCh38
NC_000006.11:g.35773634G>A , CM000668.1:g.35773634G>A GRCh37
NC_000006.10:g.35881612G>A NCBI36
NG_012184.1:g.5564G>A
NG_012184.2:g.5564G>A
NG_012184.3:g.13652G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360215.3:c.187G>A MANE Select ENSP00000353346.1:p.Gly63Ser
ENST00000651132.1:c.187G>A ENSP00000498322.1:p.Gly63Ser
ENST00000651676.1:c.187G>A ENSP00000498699.1:p.Gly63Ser
ENST00000651994.1:c.187G>A ENSP00000498310.1:p.Gly63Ser
ENST00000652718.1:c.19G>A ENSP00000498866.1:p.Gly7Ser
ENST00000360215.2:c.187G>A ENSP00000353346.1:p.Gly63Ser
NM_182548.3:c.187G>A NP_872354.1:p.Gly63Ser
XM_011514403.1:c.187G>A XP_011512705.1:p.Gly63Ser
NM_182548.4:c.187G>A MANE Select NP_872354.1:p.Gly63Ser
Search 100 bp 5'
Search 100 bp 3'