Canonical Allele Identifier: CA566493630
Gene: LHFPL5 HGNC NCBI

Linked Data

dbSNP Id: rs1216352245
gnomAD v2: 6-35765698-C-T
gnomAD v3: 6-35797921-C-T
gnomAD v4: 6-35797921-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35797921C>T , CM000668.2:g.35797921C>T GRCh38
NC_000006.11:g.35765698C>T , CM000668.1:g.35765698C>T GRCh37
NC_000006.10:g.35873676C>T NCBI36
NG_012184.3:g.5716C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000651132.1:c.-255+462C>T ENSP00000498322.1:n.-255+462C>T
XM_011514403.1:c.-135+462C>T XP_011512705.1:n.-135+462C>T