Canonical Allele Identifier: CA97208785

Gene: COX7B2

Linked Data

• dbSNP Id: rs190540182
• gnomAD v2: 4-46823513-T-G
• gnomAD v3: 4-46821496-T-G
• gnomAD v4: 4-46821496-T-G
• MyVariant Identifiers: chr4:g.46823513T>G (hg19) ; chr4:g.46821496T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.46821496T>G , CM000666.2:g.46821496T>G	GRCh38
NC_000004.11:g.46823513T>G , CM000666.1:g.46823513T>G	GRCh37
NC_000004.10:g.46518270T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355591.8:c.-50+23464A>C MANE Select	ENSP00000347799.3:n.-50+23464A>C
ENST00000355591.7:c.-50+23464A>C	ENSP00000347799.3:n.-50+23464A>C
ENST00000396533.5:c.-50+23464A>C	ENSP00000379784.1:n.-50+23464A>C
ENST00000505102.1:c.-50+23464A>C	ENSP00000423519.1:n.-50+23464A>C
ENST00000543208.5:c.-53+23464A>C	ENSP00000437439.1:n.-53+23464A>C
NM_130902.2:c.-50+23464A>C	NP_570972.2:n.-50+23464A>C
XM_011513630.1:c.-50+23464A>C	XP_011511932.1:n.-50+23464A>C
XM_011513631.1:c.-50+23464A>C	XP_011511933.1:n.-50+23464A>C
XM_011513632.1:c.-50+23464A>C	XP_011511934.1:n.-50+23464A>C
XM_011513633.1:c.-50+23464A>C	XP_011511935.1:n.-50+23464A>C
XM_011513634.1:c.-50+23464A>C	XP_011511936.1:n.-50+23464A>C
XM_011513635.1:c.-50+23464A>C	XP_011511937.1:n.-50+23464A>C
XM_011513637.1:c.-50+23464A>C	XP_011511939.1:n.-50+23464A>C
XM_011513638.1:c.-50+23464A>C	XP_011511940.1:n.-50+23464A>C
XM_011513630.2:c.-50+23464A>C	XP_011511932.1:n.-50+23464A>C
XM_011513631.2:c.-50+23464A>C	XP_011511933.1:n.-50+23464A>C
XM_011513632.2:c.-50+23464A>C	XP_011511934.1:n.-50+23464A>C
XM_011513633.2:c.-50+23464A>C	XP_011511935.1:n.-50+23464A>C
XM_011513634.2:c.-50+23464A>C	XP_011511936.1:n.-50+23464A>C
XM_011513635.2:c.-50+23464A>C	XP_011511937.1:n.-50+23464A>C
XM_011513637.2:c.-50+23464A>C	XP_011511939.1:n.-50+23464A>C
XM_011513638.2:c.-50+23464A>C	XP_011511940.1:n.-50+23464A>C
NM_130902.3:c.-50+23464A>C MANE Select	NP_570972.2:n.-50+23464A>C