Canonical Allele Identifier: CA2678434121
Gene: LHFPL5 HGNC NCBI

Linked Data

gnomAD v4: 6-35823592-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35823592T>C , CM000668.2:g.35823592T>C GRCh38
NC_000006.11:g.35791369T>C , CM000668.1:g.35791369T>C GRCh37
NC_000006.10:g.35899347T>C NCBI36
NG_012184.1:g.23299T>C
NG_012184.2:g.23299T>C
NG_012184.3:g.31387T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360215.3:c.*627T>C MANE Select ENSP00000353346.1:n.*627T>C
ENST00000496656.2:n.578+3772T>C
ENST00000651132.1:c.*627T>C ENSP00000498322.1:n.*627T>C
ENST00000651676.1:c.*16+4129T>C ENSP00000498699.1:n.*16+4129T>C
ENST00000651994.1:c.*707T>C ENSP00000498310.1:n.*707T>C
ENST00000652718.1:c.508+4129T>C ENSP00000498866.1:n.508+4129T>C
ENST00000360215.2:c.*627T>C ENSP00000353346.1:n.*627T>C
ENST00000496656.1:n.812+3772T>C
NM_182548.3:c.*627T>C NP_872354.1:n.*627T>C
NM_182548.4:c.*627T>C MANE Select NP_872354.1:n.*627T>C