Canonical Allele Identifier: CA566495850

Gene: LHFPL5

Linked Data

• dbSNP Id: rs1172282089
• gnomAD v2: 6-35791427-G-C
• gnomAD v3: 6-35823650-G-C
• gnomAD v4: 6-35823650-G-C
• MyVariant Identifiers: chr6:g.35791427G>C (hg19) ; chr6:g.35823650G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35823650G>C , CM000668.2:g.35823650G>C	GRCh38
NC_000006.11:g.35791427G>C , CM000668.1:g.35791427G>C	GRCh37
NC_000006.10:g.35899405G>C	NCBI36
NG_012184.1:g.23357G>C
NG_012184.2:g.23357G>C
NG_012184.3:g.31445G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360215.3:c.*685G>C MANE Select	ENSP00000353346.1:n.*685G>C
ENST00000496656.2:n.578+3830G>C
ENST00000651132.1:c.*685G>C	ENSP00000498322.1:n.*685G>C
ENST00000651676.1:c.*16+4187G>C	ENSP00000498699.1:n.*16+4187G>C
ENST00000651994.1:c.*765G>C	ENSP00000498310.1:n.*765G>C
ENST00000652718.1:c.508+4187G>C	ENSP00000498866.1:n.508+4187G>C
ENST00000360215.2:c.*685G>C	ENSP00000353346.1:n.*685G>C
ENST00000496656.1:n.812+3830G>C
NM_182548.3:c.*685G>C	NP_872354.1:n.*685G>C
NM_182548.4:c.*685G>C MANE Select	NP_872354.1:n.*685G>C