Canonical Allele Identifier: CA10383766

Gene: CYBB

Linked Data

• ClinVar Variation Id: 1128256
• ClinVar RCV Id: RCV001460984
• dbSNP Id: rs781984829
• ExAC: X:37655356 T / C
• gnomAD v2: X-37655356-T-C
• gnomAD v3: X-37796103-T-C
• gnomAD v4: X-37796103-T-C
• MyVariant Identifiers: chrX:g.37655356T>C (hg19) ; chrX:g.37796103T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37796103T>C , CM000685.2:g.37796103T>C	GRCh38
NC_000023.10:g.37655356T>C , CM000685.1:g.37655356T>C	GRCh37
NC_000023.9:g.37540296T>C	NCBI36
NG_009065.1:g.21083T>C , LRG_53:g.21083T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000696170.1:c.*145T>C	ENSP00000512461.1:n.*145T>C
ENST00000696171.1:c.540T>C	ENSP00000512462.1:p.Phe180=
ENST00000696172.1:c.338-2852T>C	ENSP00000512463.1:n.338-2852T>C
ENST00000378588.5:c.636T>C MANE Select	ENSP00000367851.4:p.Phe212=
ENST00000378588.4:c.636T>C	ENSP00000367851.4:p.Phe212=
ENST00000465127.1:c.171+370103T>C	ENSP00000417050.1:n.171+370103T>C
NM_000397.3:c.636T>C , LRG_53t1:c.636T>C	NP_000388.2:p.Phe212=
XM_011543890.1:c.330T>C	XP_011542192.1:p.Phe110=
NM_000397.4:c.636T>C MANE Select	NP_000388.2:p.Phe212=