Canonical Allele Identifier: CA363785771

Gene: LHFPL5

Linked Data

• ClinVar Variation Id: 3050800
• ClinVar RCV Id: RCV003956936
• dbSNP Id: rs1291098552
• gnomAD v2: 6-35782356-C-T
• gnomAD v3: 6-35814579-C-T
• gnomAD v4: 6-35814579-C-T
• MyVariant Identifiers: chr6:g.35782356C>T (hg19) ; chr6:g.35814579C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35814579C>T , CM000668.2:g.35814579C>T	GRCh38
NC_000006.11:g.35782356C>T , CM000668.1:g.35782356C>T	GRCh37
NC_000006.10:g.35890334C>T	NCBI36
NG_012184.1:g.14286C>T
NG_012184.2:g.14286C>T
NG_012184.3:g.22374C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360215.3:c.446C>T MANE Select	ENSP00000353346.1:p.Pro149Leu
ENST00000496656.2:n.225C>T
ENST00000651132.1:c.446C>T	ENSP00000498322.1:p.Pro149Leu
ENST00000651676.1:c.446C>T	ENSP00000498699.1:p.Pro149Leu
ENST00000651994.1:c.*70-4858C>T	ENSP00000498310.1:n.*70-4858C>T
ENST00000652718.1:c.278C>T	ENSP00000498866.1:p.Pro93Leu
ENST00000360215.2:c.446C>T	ENSP00000353346.1:p.Pro149Leu
ENST00000496656.1:n.225C>T
NM_182548.3:c.446C>T	NP_872354.1:p.Pro149Leu
XM_011514403.1:c.446C>T	XP_011512705.1:p.Pro149Leu
NM_182548.4:c.446C>T MANE Select	NP_872354.1:p.Pro149Leu