Canonical Allele Identifier: CA363786473

Gene: LHFPL5

Linked Data

• dbSNP Id: rs1468636267
• gnomAD v4: 6-35814782-G-C
• MyVariant Identifiers: chr6:g.35782559G>C (hg19) ; chr6:g.35814782G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35814782G>C , CM000668.2:g.35814782G>C	GRCh38
NC_000006.11:g.35782559G>C , CM000668.1:g.35782559G>C	GRCh37
NC_000006.10:g.35890537G>C	NCBI36
NG_012184.1:g.14489G>C
NG_012184.2:g.14489G>C
NG_012184.3:g.22577G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360215.3:c.649G>C MANE Select	ENSP00000353346.1:p.Glu217Gln
ENST00000496656.2:n.428G>C
ENST00000651132.1:c.649G>C	ENSP00000498322.1:p.Glu217Gln
ENST00000651676.1:c.649G>C	ENSP00000498699.1:p.Glu217Gln
ENST00000651994.1:c.*70-4655G>C	ENSP00000498310.1:n.*70-4655G>C
ENST00000652718.1:c.481G>C	ENSP00000498866.1:p.Glu161Gln
ENST00000360215.2:c.649G>C	ENSP00000353346.1:p.Glu217Gln
ENST00000496656.1:n.428G>C
NM_182548.3:c.649G>C	NP_872354.1:p.Glu217Gln
XM_011514403.1:c.649G>C	XP_011512705.1:p.Glu217Gln
NM_182548.4:c.649G>C MANE Select	NP_872354.1:p.Glu217Gln