Canonical Allele Identifier: CA137313945
Gene: LHFPL5 HGNC NCBI

Linked Data

dbSNP Id: rs554015767
gnomAD v3: 6-35823705-G-T
gnomAD v4: 6-35823705-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35823705G>T , CM000668.2:g.35823705G>T GRCh38
NC_000006.11:g.35791482G>T , CM000668.1:g.35791482G>T GRCh37
NC_000006.10:g.35899460G>T NCBI36
NG_012184.1:g.23412G>T
NG_012184.2:g.23412G>T
NG_012184.3:g.31500G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360215.3:c.*740G>T MANE Select ENSP00000353346.1:n.*740G>T
ENST00000496656.2:n.578+3885G>T
ENST00000651132.1:c.*740G>T ENSP00000498322.1:n.*740G>T
ENST00000651676.1:c.*16+4242G>T ENSP00000498699.1:n.*16+4242G>T
ENST00000651994.1:c.*820G>T ENSP00000498310.1:n.*820G>T
ENST00000652718.1:c.508+4242G>T ENSP00000498866.1:n.508+4242G>T
ENST00000360215.2:c.*740G>T ENSP00000353346.1:n.*740G>T
ENST00000496656.1:n.812+3885G>T
NM_182548.3:c.*740G>T NP_872354.1:n.*740G>T
NM_182548.4:c.*740G>T MANE Select NP_872354.1:n.*740G>T