Canonical Allele Identifier: CA450125337

Gene: LHFPL5

Linked Data

• dbSNP Id: rs1561950842
• gnomAD v2: 6-35773711-C-T
• gnomAD v4: 6-35805934-C-T
• COSMIC: COSM3626079
• MyVariant Identifiers: chr6:g.35773711C>T (hg19) ; chr6:g.35805934C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35805934C>T , CM000668.2:g.35805934C>T	GRCh38
NC_000006.11:g.35773711C>T , CM000668.1:g.35773711C>T	GRCh37
NC_000006.10:g.35881689C>T	NCBI36
NG_012184.1:g.5641C>T
NG_012184.2:g.5641C>T
NG_012184.3:g.13729C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360215.3:c.264C>T MANE Select	ENSP00000353346.1:p.Ser88=
ENST00000651132.1:c.264C>T	ENSP00000498322.1:p.Ser88=
ENST00000651676.1:c.264C>T	ENSP00000498699.1:p.Ser88=
ENST00000651994.1:c.264C>T	ENSP00000498310.1:p.Ser88=
ENST00000652718.1:c.96C>T	ENSP00000498866.1:p.Ser32=
ENST00000360215.2:c.264C>T	ENSP00000353346.1:p.Ser88=
NM_182548.3:c.264C>T	NP_872354.1:p.Ser88=
XM_011514403.1:c.264C>T	XP_011512705.1:p.Ser88=
NM_182548.4:c.264C>T MANE Select	NP_872354.1:p.Ser88=