Canonical Allele Identifier: CA1087852062
Gene: LHFPL5 HGNC NCBI

Linked Data

gnomAD v3: 6-35823431-A-C
gnomAD v4: 6-35823431-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35823431A>C , CM000668.2:g.35823431A>C GRCh38
NC_000006.11:g.35791208A>C , CM000668.1:g.35791208A>C GRCh37
NC_000006.10:g.35899186A>C NCBI36
NG_012184.1:g.23138A>C
NG_012184.2:g.23138A>C
NG_012184.3:g.31226A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360215.3:c.*466A>C MANE Select ENSP00000353346.1:n.*466A>C
ENST00000496656.2:n.578+3611A>C
ENST00000651132.1:c.*466A>C ENSP00000498322.1:n.*466A>C
ENST00000651676.1:c.*16+3968A>C ENSP00000498699.1:n.*16+3968A>C
ENST00000651994.1:c.*546A>C ENSP00000498310.1:n.*546A>C
ENST00000652718.1:c.508+3968A>C ENSP00000498866.1:n.508+3968A>C
ENST00000360215.2:c.*466A>C ENSP00000353346.1:n.*466A>C
ENST00000496656.1:n.812+3611A>C
NM_182548.3:c.*466A>C NP_872354.1:n.*466A>C
NM_182548.4:c.*466A>C MANE Select NP_872354.1:n.*466A>C