Canonical Allele Identifier: CA363785874

Gene: LHFPL5

Linked Data

• ClinVar Variation Id: 2577744
• ClinVar RCV Id: RCV003325081
• dbSNP Id: rs1316624915
• gnomAD v2: 6-35782400-C-T
• gnomAD v3: 6-35814623-C-T
• gnomAD v4: 6-35814623-C-T
• MyVariant Identifiers: chr6:g.35782400C>T (hg19) ; chr6:g.35814623C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35814623C>T , CM000668.2:g.35814623C>T	GRCh38
NC_000006.11:g.35782400C>T , CM000668.1:g.35782400C>T	GRCh37
NC_000006.10:g.35890378C>T	NCBI36
NG_012184.1:g.14330C>T
NG_012184.2:g.14330C>T
NG_012184.3:g.22418C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360215.3:c.490C>T MANE Select	ENSP00000353346.1:p.Gln164Ter
ENST00000496656.2:n.269C>T
ENST00000651132.1:c.490C>T	ENSP00000498322.1:p.Gln164Ter
ENST00000651676.1:c.490C>T	ENSP00000498699.1:p.Gln164Ter
ENST00000651994.1:c.*70-4814C>T	ENSP00000498310.1:n.*70-4814C>T
ENST00000652718.1:c.322C>T	ENSP00000498866.1:p.Gln108Ter
ENST00000360215.2:c.490C>T	ENSP00000353346.1:p.Gln164Ter
ENST00000496656.1:n.269C>T
NM_182548.3:c.490C>T	NP_872354.1:p.Gln164Ter
XM_011514403.1:c.490C>T	XP_011512705.1:p.Gln164Ter
NM_182548.4:c.490C>T MANE Select	NP_872354.1:p.Gln164Ter