Canonical Allele Identifier: CA450125622

Gene: LHFPL5

Linked Data

• dbSNP Id: rs1768560530
• gnomAD v4: 6-35805883-C-T
• COSMIC: COSM596532
• MyVariant Identifiers: chr6:g.35773660C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35805883C>T , CM000668.2:g.35805883C>T	GRCh38
NC_000006.11:g.35773660C>T , CM000668.1:g.35773660C>T	GRCh37
NC_000006.10:g.35881638C>T	NCBI36
NG_012184.1:g.5590C>T
NG_012184.2:g.5590C>T
NG_012184.3:g.13678C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360215.3:c.213C>T MANE Select	ENSP00000353346.1:p.Asn71=
ENST00000651132.1:c.213C>T	ENSP00000498322.1:p.Asn71=
ENST00000651676.1:c.213C>T	ENSP00000498699.1:p.Asn71=
ENST00000651994.1:c.213C>T	ENSP00000498310.1:p.Asn71=
ENST00000652718.1:c.45C>T	ENSP00000498866.1:p.Asn15=
ENST00000360215.2:c.213C>T	ENSP00000353346.1:p.Asn71=
NM_182548.3:c.213C>T	NP_872354.1:p.Asn71=
XM_011514403.1:c.213C>T	XP_011512705.1:p.Asn71=
NM_182548.4:c.213C>T MANE Select	NP_872354.1:p.Asn71=