Canonical Allele Identifier: CA2678434216
Gene: LHFPL5 HGNC NCBI

Linked Data

gnomAD v4: 6-35823780-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35823780C>T , CM000668.2:g.35823780C>T GRCh38
NC_000006.11:g.35791557C>T , CM000668.1:g.35791557C>T GRCh37
NC_000006.10:g.35899535C>T NCBI36
NG_012184.1:g.23487C>T
NG_012184.2:g.23487C>T
NG_012184.3:g.31575C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360215.3:c.*815C>T MANE Select ENSP00000353346.1:n.*815C>T
ENST00000496656.2:n.578+3960C>T
ENST00000651132.1:c.*815C>T ENSP00000498322.1:n.*815C>T
ENST00000651676.1:c.*16+4317C>T ENSP00000498699.1:n.*16+4317C>T
ENST00000651994.1:c.*895C>T ENSP00000498310.1:n.*895C>T
ENST00000652718.1:c.508+4317C>T ENSP00000498866.1:n.508+4317C>T
ENST00000360215.2:c.*815C>T ENSP00000353346.1:n.*815C>T
ENST00000496656.1:n.812+3960C>T
NM_182548.3:c.*815C>T NP_872354.1:n.*815C>T
NM_182548.4:c.*815C>T MANE Select NP_872354.1:n.*815C>T