Canonical Allele Identifier: CA137315975
Gene: LHFPL5 HGNC NCBI

Linked Data

dbSNP Id: rs112294132
gnomAD v2: 6-35765515-T-C
gnomAD v3: 6-35797738-T-C
gnomAD v4: 6-35797738-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35797738T>C , CM000668.2:g.35797738T>C GRCh38
NC_000006.11:g.35765515T>C , CM000668.1:g.35765515T>C GRCh37
NC_000006.10:g.35873493T>C NCBI36
NG_012184.3:g.5533T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000651132.1:c.-255+279T>C ENSP00000498322.1:n.-255+279T>C
XM_011514403.1:c.-135+279T>C XP_011512705.1:n.-135+279T>C