Canonical Allele Identifier: CA10269609

Gene: CYB5R3

Linked Data

• ClinVar Variation Id: 1694454
• ClinVar RCV Id: RCV002262175
• dbSNP Id: rs763259379
• ExAC: 22:43019820 C / T
• gnomAD v2: 22-43019820-C-T
• gnomAD v3: 22-42623814-C-T
• gnomAD v4: 22-42623814-C-T
• MyVariant Identifiers: chr22:g.43019820C>T (hg19) ; chr22:g.42623814C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623814C>T , CM000684.2:g.42623814C>T	GRCh38
NC_000022.10:g.43019820C>T , CM000684.1:g.43019820C>T	GRCh37
NC_000022.9:g.41349764C>T	NCBI36
NG_012194.1:g.30586G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.840G>A	ENSP00000354468.5:p.Trp280Ter
ENST00000402438.6:c.639G>A	ENSP00000385679.1:p.Trp213Ter
ENST00000407332.6:c.726G>A	ENSP00000384457.2:p.Trp242Ter
ENST00000407623.8:c.639G>A	ENSP00000384834.3:p.Trp213Ter
ENST00000617178.5:c.245G>A
ENST00000684963.1:n.2448G>A
ENST00000685184.1:n.300G>A
ENST00000686523.1:c.*657G>A	ENSP00000508940.1:n.*657G>A
ENST00000687183.1:n.984G>A
ENST00000687198.1:c.639G>A	ENSP00000508492.1:p.Trp213Ter
ENST00000688117.1:c.807G>A	ENSP00000509015.1:p.Trp269Ter
ENST00000688244.1:c.408G>A	ENSP00000510355.1:p.Trp136Ter
ENST00000689001.1:n.1330G>A
ENST00000689195.1:c.624G>A	ENSP00000509895.1:p.Trp208Ter
ENST00000689239.1:n.875G>A
ENST00000689795.1:n.969G>A
ENST00000690835.1:c.*87G>A	ENSP00000509038.1:n.*87G>A
ENST00000690993.1:n.1463G>A
ENST00000691295.1:c.*191G>A	ENSP00000508706.1:n.*191G>A
ENST00000691918.1:c.998G>A	ENSP00000509525.1:n.998G>A
ENST00000692152.1:c.639G>A	ENSP00000509317.1:p.Trp213Ter
ENST00000692344.1:n.1195G>A
ENST00000693363.1:c.750G>A	ENSP00000510411.1:p.Trp250Ter
ENST00000693367.1:c.708G>A	ENSP00000508815.1:p.Trp236Ter
ENST00000693639.1:c.701G>A	ENSP00000510223.1:n.701G>A
ENST00000693646.1:c.614G>A	ENSP00000508449.1:n.614G>A
ENST00000352397.10:c.708G>A MANE Select	ENSP00000338461.6:p.Trp236Ter
ENST00000352397.9:c.708G>A	ENSP00000338461.6:p.Trp236Ter
ENST00000361740.8:c.807G>A	ENSP00000354468.4:p.Trp269Ter
ENST00000402438.5:c.639G>A	ENSP00000385679.1:p.Trp213Ter
ENST00000407332.5:c.639G>A	ENSP00000384457.1:p.Trp213Ter
ENST00000407623.7:c.639G>A	ENSP00000384834.3:p.Trp213Ter
ENST00000470741.1:n.2842G>A
NM_000398.6:c.708G>A	NP_000389.1:p.Trp236Ter
NM_001129819.2:c.639G>A	NP_001123291.1:p.Trp213Ter
NM_001171660.1:c.807G>A	NP_001165131.1:p.Trp269Ter
NM_001171661.1:c.639G>A	NP_001165132.1:p.Trp213Ter
NM_007326.4:c.639G>A	NP_015565.1:p.Trp213Ter
NM_000398.7:c.708G>A MANE Select	NP_000389.1:p.Trp236Ter
NM_001171660.2:c.807G>A	NP_001165131.1:p.Trp269Ter