Canonical Allele Identifier: CA3774411
Gene: LHFPL5 HGNC NCBI

Linked Data

dbSNP Id: rs778655092
gnomAD v2: 6-35782305-C-A
gnomAD v4: 6-35814528-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35814528C>A , CM000668.2:g.35814528C>A GRCh38
NC_000006.11:g.35782305C>A , CM000668.1:g.35782305C>A GRCh37
NC_000006.10:g.35890283C>A NCBI36
NG_012184.1:g.14235C>A
NG_012184.2:g.14235C>A
NG_012184.3:g.22323C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000360215.3:c.413-18C>A MANE Select ENSP00000353346.1:n.413-18C>A
ENST00000496656.2:n.192-18C>A
ENST00000651132.1:c.413-18C>A ENSP00000498322.1:n.413-18C>A
ENST00000651676.1:c.413-18C>A ENSP00000498699.1:n.413-18C>A
ENST00000651994.1:c.*70-4909C>A ENSP00000498310.1:n.*70-4909C>A
ENST00000652718.1:c.245-18C>A ENSP00000498866.1:n.245-18C>A
ENST00000360215.2:c.413-18C>A ENSP00000353346.1:n.413-18C>A
ENST00000496656.1:n.192-18C>A
NM_182548.3:c.413-18C>A NP_872354.1:n.413-18C>A
XM_011514403.1:c.413-18C>A XP_011512705.1:n.413-18C>A
NM_182548.4:c.413-18C>A MANE Select NP_872354.1:n.413-18C>A