Canonical Allele Identifier: CA3774382

Gene: LHFPL5

Linked Data

• ClinVar Variation Id: 356490
• ClinVar RCV Id: RCV000400063
• dbSNP Id: rs147162459
• ExAC: 6:35773813 C / T
• gnomAD v2: 6-35773813-C-T
• gnomAD v3: 6-35806036-C-T
• gnomAD v4: 6-35806036-C-T
• MyVariant Identifiers: chr6:g.35773813C>T (hg19) ; chr6:g.35806036C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35806036C>T , CM000668.2:g.35806036C>T	GRCh38
NC_000006.11:g.35773813C>T , CM000668.1:g.35773813C>T	GRCh37
NC_000006.10:g.35881791C>T	NCBI36
NG_012184.1:g.5743C>T
NG_012184.2:g.5743C>T
NG_012184.3:g.13831C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000360215.3:c.366C>T MANE Select	ENSP00000353346.1:p.Asn122=
ENST00000651132.1:c.366C>T	ENSP00000498322.1:p.Asn122=
ENST00000651676.1:c.366C>T	ENSP00000498699.1:p.Asn122=
ENST00000651994.1:c.366C>T	ENSP00000498310.1:p.Asn122=
ENST00000652718.1:c.198C>T	ENSP00000498866.1:p.Asn66=
ENST00000360215.2:c.366C>T	ENSP00000353346.1:p.Asn122=
NM_182548.3:c.366C>T	NP_872354.1:p.Asn122=
XM_011514403.1:c.366C>T	XP_011512705.1:p.Asn122=
NM_182548.4:c.366C>T MANE Select	NP_872354.1:p.Asn122=