Canonical Allele Identifier: CA15092347

Gene: KAZN

Linked Data

• dbSNP Id: rs6429703
• gnomAD v2: 1-15339960-T-C
• gnomAD v3: 1-15013464-T-C
• gnomAD v4: 1-15013464-T-C
• MyVariant Identifiers: chr1:g.15339960T>C (hg19) ; chr1:g.15013464T>C (hg38)
• Allelic Epigenome: Alellic Epigenome (raw data)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.15013464T>C , CM000663.2:g.15013464T>C	GRCh38
NC_000001.10:g.15339960T>C , CM000663.1:g.15339960T>C	GRCh37
NC_000001.9:g.15212547T>C	NCBI36
NG_029844.1:g.419748T>C
NG_029844.2:g.1125079T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376030.7:c.419-21285T>C MANE Select	ENSP00000365198.2:n.419-21285T>C
ENST00000636203.1:c.683-21285T>C	ENSP00000490958.1:n.683-21285T>C
ENST00000361144.9:c.401-21285T>C	ENSP00000354727.5:n.401-21285T>C
ENST00000376028.8:c.137-21285T>C	ENSP00000365196.4:n.137-21285T>C
ENST00000376030.6:c.419-21285T>C	ENSP00000365198.2:n.419-21285T>C
ENST00000400797.3:c.137-21285T>C	ENSP00000383601.3:n.137-21285T>C
ENST00000400798.6:c.137-21285T>C	ENSP00000383602.2:n.137-21285T>C
ENST00000491547.1:n.713-21285T>C
ENST00000503743.5:c.419-21285T>C	ENSP00000426015.1:n.419-21285T>C
NM_001017999.2:c.137-21285T>C	NP_001017999.1:n.137-21285T>C
NM_001018000.3:c.401-21285T>C	NP_001018000.1:n.401-21285T>C
NM_001018001.2:c.137-21285T>C	NP_001018001.1:n.137-21285T>C
NM_015209.2:c.419-21285T>C	NP_056024.1:n.419-21285T>C
NM_201628.2:c.419-21285T>C	NP_963922.2:n.419-21285T>C
XM_005245795.3:c.713-21285T>C	XP_005245852.1:n.713-21285T>C
XM_011541074.1:c.713-21285T>C	XP_011539376.1:n.713-21285T>C
XM_011541075.1:c.401-21285T>C	XP_011539377.1:n.401-21285T>C
XM_011541076.1:c.137-21285T>C	XP_011539378.1:n.137-21285T>C
XM_011541077.1:c.137-21285T>C	XP_011539379.1:n.137-21285T>C
XM_011541078.1:c.713-21285T>C	XP_011539380.1:n.713-21285T>C
XM_011541079.1:c.713-21285T>C	XP_011539381.1:n.713-21285T>C
XM_011541080.1:c.713-21285T>C	XP_011539382.1:n.713-21285T>C
XM_005245795.5:c.713-21285T>C	XP_005245852.1:n.713-21285T>C
XM_011541074.3:c.713-21285T>C	XP_011539376.1:n.713-21285T>C
XM_011541075.2:c.401-21285T>C	XP_011539377.1:n.401-21285T>C
XM_011541076.2:c.137-21285T>C	XP_011539378.1:n.137-21285T>C
XM_011541077.2:c.137-21285T>C	XP_011539379.1:n.137-21285T>C
XM_011541080.3:c.713-21285T>C	XP_011539382.1:n.713-21285T>C
XM_017000768.2:c.713-21285T>C	XP_016856257.1:n.713-21285T>C
XM_017000769.2:c.713-21285T>C	XP_016856258.1:n.713-21285T>C
XM_017000770.2:c.713-21285T>C	XP_016856259.1:n.713-21285T>C
XM_017000771.1:c.419-21285T>C	XP_016856260.1:n.419-21285T>C
XM_017000772.2:c.194-21285T>C	XP_016856261.1:n.194-21285T>C
NM_201628.3:c.419-21285T>C MANE Select	NP_963922.2:n.419-21285T>C
NM_001370229.1:c.392-21285T>C	NP_001357158.1:n.392-21285T>C
NM_001370230.1:c.224-21285T>C	NP_001357159.1:n.224-21285T>C
NM_001370231.1:c.416-21285T>C	NP_001357160.1:n.416-21285T>C
NM_001017999.3:c.137-21285T>C	NP_001017999.1:n.137-21285T>C
NM_001018000.4:c.401-21285T>C	NP_001018000.1:n.401-21285T>C
NM_001018001.3:c.137-21285T>C	NP_001018001.1:n.137-21285T>C