Canonical Allele Identifier: CA137313978
Gene: LHFPL5 HGNC NCBI

Linked Data

dbSNP Id: rs1024065837
gnomAD v3: 6-35823854-T-C
gnomAD v4: 6-35823854-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35823854T>C , CM000668.2:g.35823854T>C GRCh38
NC_000006.11:g.35791631T>C , CM000668.1:g.35791631T>C GRCh37
NC_000006.10:g.35899609T>C NCBI36
NG_012184.1:g.23561T>C
NG_012184.2:g.23561T>C
NG_012184.3:g.31649T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360215.3:c.*889T>C MANE Select ENSP00000353346.1:n.*889T>C
ENST00000496656.2:n.578+4034T>C
ENST00000651132.1:c.*889T>C ENSP00000498322.1:n.*889T>C
ENST00000651676.1:c.*16+4391T>C ENSP00000498699.1:n.*16+4391T>C
ENST00000651994.1:c.*969T>C ENSP00000498310.1:n.*969T>C
ENST00000652718.1:c.508+4391T>C ENSP00000498866.1:n.508+4391T>C
ENST00000360215.2:c.*889T>C ENSP00000353346.1:n.*889T>C
ENST00000496656.1:n.812+4034T>C
NM_182548.3:c.*889T>C NP_872354.1:n.*889T>C
NM_182548.4:c.*889T>C MANE Select NP_872354.1:n.*889T>C