Canonical Allele Identifier: CA411796394

Gene: CYB5R3

Linked Data

• ClinVar Variation Id: 2585487
• ClinVar RCV Id: RCV003338103
• MyVariant Identifiers: chr22:g.43019826C>A (hg19) ; chr22:g.42623820C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623820C>A , CM000684.2:g.42623820C>A	GRCh38
NC_000022.10:g.43019826C>A , CM000684.1:g.43019826C>A	GRCh37
NC_000022.9:g.41349770C>A	NCBI36
NG_012194.1:g.30580G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.834G>T	ENSP00000354468.5:p.Lys278Asn
ENST00000402438.6:c.633G>T	ENSP00000385679.1:p.Lys211Asn
ENST00000407332.6:c.720G>T	ENSP00000384457.2:p.Lys240Asn
ENST00000407623.8:c.633G>T	ENSP00000384834.3:p.Lys211Asn
ENST00000617178.5:c.239G>T
ENST00000684963.1:n.2442G>T
ENST00000685184.1:n.294G>T
ENST00000686523.1:c.*651G>T	ENSP00000508940.1:n.*651G>T
ENST00000687183.1:n.978G>T
ENST00000687198.1:c.633G>T	ENSP00000508492.1:p.Lys211Asn
ENST00000688117.1:c.801G>T	ENSP00000509015.1:p.Lys267Asn
ENST00000688244.1:c.402G>T	ENSP00000510355.1:p.Lys134Asn
ENST00000689001.1:n.1324G>T
ENST00000689195.1:c.618G>T	ENSP00000509895.1:p.Lys206Asn
ENST00000689239.1:n.869G>T
ENST00000689795.1:n.963G>T
ENST00000690835.1:c.*81G>T	ENSP00000509038.1:n.*81G>T
ENST00000690993.1:n.1457G>T
ENST00000691295.1:c.*185G>T	ENSP00000508706.1:n.*185G>T
ENST00000691918.1:c.992G>T	ENSP00000509525.1:n.992G>T
ENST00000692152.1:c.633G>T	ENSP00000509317.1:p.Lys211Asn
ENST00000692344.1:n.1189G>T
ENST00000693363.1:c.744G>T	ENSP00000510411.1:p.Lys248Asn
ENST00000693367.1:c.702G>T	ENSP00000508815.1:p.Lys234Asn
ENST00000693639.1:c.695G>T	ENSP00000510223.1:n.695G>T
ENST00000693646.1:c.608G>T	ENSP00000508449.1:n.608G>T
ENST00000352397.10:c.702G>T MANE Select	ENSP00000338461.6:p.Lys234Asn
ENST00000352397.9:c.702G>T	ENSP00000338461.6:p.Lys234Asn
ENST00000361740.8:c.801G>T	ENSP00000354468.4:p.Lys267Asn
ENST00000402438.5:c.633G>T	ENSP00000385679.1:p.Lys211Asn
ENST00000407332.5:c.633G>T	ENSP00000384457.1:p.Lys211Asn
ENST00000407623.7:c.633G>T	ENSP00000384834.3:p.Lys211Asn
ENST00000470741.1:n.2836G>T
NM_000398.6:c.702G>T	NP_000389.1:p.Lys234Asn
NM_001129819.2:c.633G>T	NP_001123291.1:p.Lys211Asn
NM_001171660.1:c.801G>T	NP_001165131.1:p.Lys267Asn
NM_001171661.1:c.633G>T	NP_001165132.1:p.Lys211Asn
NM_007326.4:c.633G>T	NP_015565.1:p.Lys211Asn
NM_000398.7:c.702G>T MANE Select	NP_000389.1:p.Lys234Asn
NM_001171660.2:c.801G>T	NP_001165131.1:p.Lys267Asn