Canonical Allele Identifier: CA1087851973
Gene: LHFPL5 HGNC NCBI

Linked Data

gnomAD v3: 6-35823328-C-A
gnomAD v4: 6-35823328-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35823328C>A , CM000668.2:g.35823328C>A GRCh38
NC_000006.11:g.35791105C>A , CM000668.1:g.35791105C>A GRCh37
NC_000006.10:g.35899083C>A NCBI36
NG_012184.1:g.23035C>A
NG_012184.2:g.23035C>A
NG_012184.3:g.31123C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360215.3:c.*363C>A MANE Select ENSP00000353346.1:n.*363C>A
ENST00000496656.2:n.578+3508C>A
ENST00000651132.1:c.*363C>A ENSP00000498322.1:n.*363C>A
ENST00000651676.1:c.*16+3865C>A ENSP00000498699.1:n.*16+3865C>A
ENST00000651994.1:c.*443C>A ENSP00000498310.1:n.*443C>A
ENST00000652718.1:c.508+3865C>A ENSP00000498866.1:n.508+3865C>A
ENST00000360215.2:c.*363C>A ENSP00000353346.1:n.*363C>A
ENST00000496656.1:n.812+3508C>A
NM_182548.3:c.*363C>A NP_872354.1:n.*363C>A
XM_011514403.1:c.*363C>A XP_011512705.1:n.*363C>A
NM_182548.4:c.*363C>A MANE Select NP_872354.1:n.*363C>A