Canonical Allele Identifier: CA137313937

Gene: LHFPL5

Linked Data

• dbSNP Id: rs183385533
• gnomAD v2: 6-35791475-A-C
• gnomAD v3: 6-35823698-A-C
• gnomAD v4: 6-35823698-A-C
• MyVariant Identifiers: chr6:g.35791475A>C (hg19) ; chr6:g.35823698A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35823698A>C , CM000668.2:g.35823698A>C	GRCh38
NC_000006.11:g.35791475A>C , CM000668.1:g.35791475A>C	GRCh37
NC_000006.10:g.35899453A>C	NCBI36
NG_012184.1:g.23405A>C
NG_012184.2:g.23405A>C
NG_012184.3:g.31493A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360215.3:c.*733A>C MANE Select	ENSP00000353346.1:n.*733A>C
ENST00000496656.2:n.578+3878A>C
ENST00000651132.1:c.*733A>C	ENSP00000498322.1:n.*733A>C
ENST00000651676.1:c.*16+4235A>C	ENSP00000498699.1:n.*16+4235A>C
ENST00000651994.1:c.*813A>C	ENSP00000498310.1:n.*813A>C
ENST00000652718.1:c.508+4235A>C	ENSP00000498866.1:n.508+4235A>C
ENST00000360215.2:c.*733A>C	ENSP00000353346.1:n.*733A>C
ENST00000496656.1:n.812+3878A>C
NM_182548.3:c.*733A>C	NP_872354.1:n.*733A>C
NM_182548.4:c.*733A>C MANE Select	NP_872354.1:n.*733A>C