Canonical Allele Identifier: CA3774417

Gene: LHFPL5

Linked Data

• dbSNP Id: rs150144623
• ExAC: 6:35782361 G / T
• gnomAD v2: 6-35782361-G-T
• gnomAD v4: 6-35814584-G-T
• MyVariant Identifiers: chr6:g.35782361G>T (hg19) ; chr6:g.35814584G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35814584G>T , CM000668.2:g.35814584G>T	GRCh38
NC_000006.11:g.35782361G>T , CM000668.1:g.35782361G>T	GRCh37
NC_000006.10:g.35890339G>T	NCBI36
NG_012184.1:g.14291G>T
NG_012184.2:g.14291G>T
NG_012184.3:g.22379G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360215.3:c.451G>T MANE Select	ENSP00000353346.1:p.Gly151Cys
ENST00000496656.2:n.230G>T
ENST00000651132.1:c.451G>T	ENSP00000498322.1:p.Gly151Cys
ENST00000651676.1:c.451G>T	ENSP00000498699.1:p.Gly151Cys
ENST00000651994.1:c.*70-4853G>T	ENSP00000498310.1:n.*70-4853G>T
ENST00000652718.1:c.283G>T	ENSP00000498866.1:p.Gly95Cys
ENST00000360215.2:c.451G>T	ENSP00000353346.1:p.Gly151Cys
ENST00000496656.1:n.230G>T
NM_182548.3:c.451G>T	NP_872354.1:p.Gly151Cys
XM_011514403.1:c.451G>T	XP_011512705.1:p.Gly151Cys
NM_182548.4:c.451G>T MANE Select	NP_872354.1:p.Gly151Cys