Canonical Allele Identifier: CA16606347

Gene: LBHD1 UQCC3

Linked Data

• ClinVar Variation Id: 388355
• ClinVar RCV Id: RCV000422436
• dbSNP Id: rs1057523079
• gnomAD v2: 11-62439597-G-A
• gnomAD v3: 11-62672125-G-A
• gnomAD v4: 11-62672125-G-A
• MyVariant Identifiers: chr11:g.62439597G>A (hg19) ; chr11:g.62672125G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62672125G>A , CM000673.2:g.62672125G>A	GRCh38
NC_000011.9:g.62439597G>A , CM000673.1:g.62439597G>A	GRCh37
NC_000011.8:g.62196173G>A	NCBI36
NG_041802.1:g.5472G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000354588.8:c.-572C>T (LBHD1) MANE Select	ENSP00000346600.3:n.-572C>T
ENST00000377953.4:c.*11G>A (UQCC3) MANE Select	ENSP00000367189.3:n.*11G>A
ENST00000377953.3:c.*11G>A (UQCC3)	ENSP00000367189.3:n.*11G>A
ENST00000528862.2:c.93+2C>T (LBHD1)	ENSP00000434489.2:n.93+2C>T
ENST00000531323.1:c.*11G>A (UQCC3)	ENSP00000432692.1:n.*11G>A
NM_001085372.2:c.*11G>A (UQCC3)	NP_001078841.1:n.*11G>A
NM_001085372.3:c.*11G>A (UQCC3) MANE Select	NP_001078841.1:n.*11G>A
NM_001367940.2:c.-572C>T (LBHD1)	NP_001354869.1:n.-572C>T
NM_001367941.2:c.-1089C>T (LBHD1)	NP_001354870.1:n.-1089C>T
NM_001394596.1:c.-378C>T (LBHD1)	NP_001381525.1:n.-378C>T
NM_001394599.1:c.-378C>T (LBHD1)	NP_001381528.1:n.-378C>T
NM_001394601.1:c.-378C>T (LBHD1)	NP_001381530.1:n.-378C>T
NM_001394604.1:c.-620C>T (LBHD1)	NP_001381533.1:n.-620C>T
NM_001394606.1:c.-378C>T (LBHD1)	NP_001381535.1:n.-378C>T
NM_001394607.1:c.-620C>T (LBHD1)	NP_001381536.1:n.-620C>T
NM_001394609.1:c.-765C>T (LBHD1)	NP_001381538.1:n.-765C>T
NM_001394611.1:c.-696C>T (LBHD1)	NP_001381540.1:n.-696C>T
NM_001394612.1:c.-1020C>T (LBHD1)	NP_001381541.1:n.-1020C>T
NM_024099.5:c.-572C>T (LBHD1) MANE Select	NP_077004.2:n.-572C>T