Canonical Allele Identifier: CA137315993
Gene: LHFPL5 HGNC NCBI

Linked Data

dbSNP Id: rs148093518
gnomAD v2: 6-35765576-G-C
gnomAD v3: 6-35797799-G-C
gnomAD v4: 6-35797799-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35797799G>C , CM000668.2:g.35797799G>C GRCh38
NC_000006.11:g.35765576G>C , CM000668.1:g.35765576G>C GRCh37
NC_000006.10:g.35873554G>C NCBI36
NG_012184.3:g.5594G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000651132.1:c.-255+340G>C ENSP00000498322.1:n.-255+340G>C
XM_011514403.1:c.-135+340G>C XP_011512705.1:n.-135+340G>C