Canonical Allele Identifier: CA1087852143

Gene: LHFPL5

Linked Data

• dbSNP Id: rs1768918604
• gnomAD v3: 6-35823546-A-C
• gnomAD v4: 6-35823546-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35823546A>C , CM000668.2:g.35823546A>C	GRCh38
NC_000006.11:g.35791323A>C , CM000668.1:g.35791323A>C	GRCh37
NC_000006.10:g.35899301A>C	NCBI36
NG_012184.1:g.23253A>C
NG_012184.2:g.23253A>C
NG_012184.3:g.31341A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000360215.3:c.*581A>C MANE Select	ENSP00000353346.1:n.*581A>C
ENST00000496656.2:n.578+3726A>C
ENST00000651132.1:c.*581A>C	ENSP00000498322.1:n.*581A>C
ENST00000651676.1:c.*16+4083A>C	ENSP00000498699.1:n.*16+4083A>C
ENST00000651994.1:c.*661A>C	ENSP00000498310.1:n.*661A>C
ENST00000652718.1:c.508+4083A>C	ENSP00000498866.1:n.508+4083A>C
ENST00000360215.2:c.*581A>C	ENSP00000353346.1:n.*581A>C
ENST00000496656.1:n.812+3726A>C
NM_182548.3:c.*581A>C	NP_872354.1:n.*581A>C
NM_182548.4:c.*581A>C MANE Select	NP_872354.1:n.*581A>C