Canonical Allele Identifier: CA551287817

Gene: COX7B2

Linked Data

• dbSNP Id: rs1388775493
• gnomAD v2: 4-46823638-C-T
• gnomAD v3: 4-46821621-C-T
• gnomAD v4: 4-46821621-C-T
• MyVariant Identifiers: chr4:g.46823638C>T (hg19) ; chr4:g.46821621C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.46821621C>T , CM000666.2:g.46821621C>T	GRCh38
NC_000004.11:g.46823638C>T , CM000666.1:g.46823638C>T	GRCh37
NC_000004.10:g.46518395C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000355591.8:c.-50+23339G>A MANE Select	ENSP00000347799.3:n.-50+23339G>A
ENST00000355591.7:c.-50+23339G>A	ENSP00000347799.3:n.-50+23339G>A
ENST00000396533.5:c.-50+23339G>A	ENSP00000379784.1:n.-50+23339G>A
ENST00000505102.1:c.-50+23339G>A	ENSP00000423519.1:n.-50+23339G>A
ENST00000543208.5:c.-53+23339G>A	ENSP00000437439.1:n.-53+23339G>A
NM_130902.2:c.-50+23339G>A	NP_570972.2:n.-50+23339G>A
XM_011513630.1:c.-50+23339G>A	XP_011511932.1:n.-50+23339G>A
XM_011513631.1:c.-50+23339G>A	XP_011511933.1:n.-50+23339G>A
XM_011513632.1:c.-50+23339G>A	XP_011511934.1:n.-50+23339G>A
XM_011513633.1:c.-50+23339G>A	XP_011511935.1:n.-50+23339G>A
XM_011513634.1:c.-50+23339G>A	XP_011511936.1:n.-50+23339G>A
XM_011513635.1:c.-50+23339G>A	XP_011511937.1:n.-50+23339G>A
XM_011513637.1:c.-50+23339G>A	XP_011511939.1:n.-50+23339G>A
XM_011513638.1:c.-50+23339G>A	XP_011511940.1:n.-50+23339G>A
XM_011513630.2:c.-50+23339G>A	XP_011511932.1:n.-50+23339G>A
XM_011513631.2:c.-50+23339G>A	XP_011511933.1:n.-50+23339G>A
XM_011513632.2:c.-50+23339G>A	XP_011511934.1:n.-50+23339G>A
XM_011513633.2:c.-50+23339G>A	XP_011511935.1:n.-50+23339G>A
XM_011513634.2:c.-50+23339G>A	XP_011511936.1:n.-50+23339G>A
XM_011513635.2:c.-50+23339G>A	XP_011511937.1:n.-50+23339G>A
XM_011513637.2:c.-50+23339G>A	XP_011511939.1:n.-50+23339G>A
XM_011513638.2:c.-50+23339G>A	XP_011511940.1:n.-50+23339G>A
NM_130902.3:c.-50+23339G>A MANE Select	NP_570972.2:n.-50+23339G>A