Canonical Allele Identifier: CA363784619
Gene: LHFPL5 HGNC NCBI

Linked Data

gnomAD v4: 6-35805938-C-T
COSMIC: COSM139640

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35805938C>T , CM000668.2:g.35805938C>T GRCh38
NC_000006.11:g.35773715C>T , CM000668.1:g.35773715C>T GRCh37
NC_000006.10:g.35881693C>T NCBI36
NG_012184.1:g.5645C>T
NG_012184.2:g.5645C>T
NG_012184.3:g.13733C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360215.3:c.268C>T MANE Select ENSP00000353346.1:p.Pro90Ser
ENST00000651132.1:c.268C>T ENSP00000498322.1:p.Pro90Ser
ENST00000651676.1:c.268C>T ENSP00000498699.1:p.Pro90Ser
ENST00000651994.1:c.268C>T ENSP00000498310.1:p.Pro90Ser
ENST00000652718.1:c.100C>T ENSP00000498866.1:p.Pro34Ser
ENST00000360215.2:c.268C>T ENSP00000353346.1:p.Pro90Ser
NM_182548.3:c.268C>T NP_872354.1:p.Pro90Ser
XM_011514403.1:c.268C>T XP_011512705.1:p.Pro90Ser
NM_182548.4:c.268C>T MANE Select NP_872354.1:p.Pro90Ser