Canonical Allele Identifier: CA10270087

Gene: CYB5R3

Linked Data

• ClinVar Variation Id: 994069
• ClinVar RCV Id: RCV001813054
• dbSNP Id: rs8190370
• ExAC: 22:43045295 G / A
• gnomAD v2: 22-43045295-G-A
• gnomAD v3: 22-42649289-G-A
• gnomAD v4: 22-42649289-G-A
• MyVariant Identifiers: chr22:g.43045295G>A (hg19) ; chr22:g.42649289G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42649289G>A , CM000684.2:g.42649289G>A	GRCh38
NC_000022.10:g.43045295G>A , CM000684.1:g.43045295G>A	GRCh37
NC_000022.9:g.41375239G>A	NCBI36
NG_012194.1:g.5111C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000361740.9:c.21+6C>T	ENSP00000354468.5:n.21+6C>T
ENST00000407332.6:c.21+6C>T	ENSP00000384457.2:n.21+6C>T
ENST00000466276.2:n.88+6C>T
ENST00000686129.1:c.-48-12443C>T	ENSP00000508623.1:n.-48-12443C>T
ENST00000686523.1:c.21+6C>T	ENSP00000508940.1:n.21+6C>T
ENST00000687183.1:n.82+6C>T
ENST00000688004.1:n.66+6C>T
ENST00000688244.1:c.21+6C>T	ENSP00000510355.1:n.21+6C>T
ENST00000689195.1:c.21+6C>T	ENSP00000509895.1:n.21+6C>T
ENST00000689239.1:n.58+6C>T
ENST00000689795.1:n.53+6C>T
ENST00000690835.1:c.21+6C>T	ENSP00000509038.1:n.21+6C>T
ENST00000690993.1:n.98+6C>T
ENST00000691295.1:c.21+6C>T	ENSP00000508706.1:n.21+6C>T
ENST00000692152.1:c.-48-12443C>T	ENSP00000509317.1:n.-48-12443C>T
ENST00000692344.1:n.45+6C>T
ENST00000693363.1:c.21+6C>T	ENSP00000510411.1:n.21+6C>T
ENST00000693367.1:c.21+6C>T	ENSP00000508815.1:n.21+6C>T
ENST00000693716.1:n.250-12443C>T
ENST00000352397.10:c.21+6C>T MANE Select	ENSP00000338461.6:n.21+6C>T
ENST00000352397.9:c.21+6C>T	ENSP00000338461.6:n.21+6C>T
NM_000398.6:c.21+6C>T	NP_000389.1:n.21+6C>T
NM_000398.7:c.21+6C>T MANE Select	NP_000389.1:n.21+6C>T