Canonical Allele Identifier: CA6052595

Gene: LBHD1 UQCC3

Linked Data

• ClinVar Variation Id: 376907
• ClinVar RCV Id: RCV000427950 ; RCV000602327
• dbSNP Id: rs143509965
• ExAC: 11:62439530 T / G
• gnomAD v2: 11-62439530-T-G
• gnomAD v3: 11-62672058-T-G
• gnomAD v4: 11-62672058-T-G
• MyVariant Identifiers: chr11:g.62439530T>G (hg19) ; chr11:g.62672058T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62672058T>G , CM000673.2:g.62672058T>G	GRCh38
NC_000011.9:g.62439530T>G , CM000673.1:g.62439530T>G	GRCh37
NC_000011.8:g.62196106T>G	NCBI36
NG_041802.1:g.5405T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354588.8:c.-505A>C (LBHD1) MANE Select	ENSP00000346600.3:n.-505A>C
ENST00000377953.4:c.226T>G (UQCC3) MANE Select	ENSP00000367189.3:p.Trp76Gly
ENST00000377953.3:c.226T>G (UQCC3)	ENSP00000367189.3:p.Trp76Gly
ENST00000528862.2:c.93+69A>C (LBHD1)	ENSP00000434489.2:n.93+69A>C
ENST00000531323.1:c.226T>G (UQCC3)	ENSP00000432692.1:p.Trp76Gly
NM_001085372.2:c.226T>G (UQCC3)	NP_001078841.1:p.Trp76Gly
NM_001085372.3:c.226T>G (UQCC3) MANE Select	NP_001078841.1:p.Trp76Gly
NM_001367940.2:c.-505A>C (LBHD1)	NP_001354869.1:n.-505A>C
NM_001367941.2:c.-1022A>C (LBHD1)	NP_001354870.1:n.-1022A>C
NM_001394596.1:c.-311A>C (LBHD1)	NP_001381525.1:n.-311A>C
NM_001394599.1:c.-311A>C (LBHD1)	NP_001381528.1:n.-311A>C
NM_001394601.1:c.-311A>C (LBHD1)	NP_001381530.1:n.-311A>C
NM_001394604.1:c.-553A>C (LBHD1)	NP_001381533.1:n.-553A>C
NM_001394606.1:c.-311A>C (LBHD1)	NP_001381535.1:n.-311A>C
NM_001394607.1:c.-553A>C (LBHD1)	NP_001381536.1:n.-553A>C
NM_001394609.1:c.-698A>C (LBHD1)	NP_001381538.1:n.-698A>C
NM_001394611.1:c.-629A>C (LBHD1)	NP_001381540.1:n.-629A>C
NM_001394612.1:c.-953A>C (LBHD1)	NP_001381541.1:n.-953A>C
NM_024099.5:c.-505A>C (LBHD1) MANE Select	NP_077004.2:n.-505A>C