Canonical Allele Identifier: CA566493629
Gene: LHFPL5 HGNC NCBI

Linked Data

dbSNP Id: rs1219870219
gnomAD v2: 6-35765647-T-C
gnomAD v3: 6-35797870-T-C
gnomAD v4: 6-35797870-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35797870T>C , CM000668.2:g.35797870T>C GRCh38
NC_000006.11:g.35765647T>C , CM000668.1:g.35765647T>C GRCh37
NC_000006.10:g.35873625T>C NCBI36
NG_012184.3:g.5665T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000651132.1:c.-255+411T>C ENSP00000498322.1:n.-255+411T>C
XM_011514403.1:c.-135+411T>C XP_011512705.1:n.-135+411T>C