Canonical Allele Identifier: CA640895201

Gene: CYBB

Linked Data

• dbSNP Id: rs1473139853
• gnomAD v2: X-37642995-T-C
• gnomAD v4: X-37783742-T-C
• MyVariant Identifiers: chrX:g.37642995T>C (hg19) ; chrX:g.37783742T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37783742T>C , CM000685.2:g.37783742T>C	GRCh38
NC_000023.10:g.37642995T>C , CM000685.1:g.37642995T>C	GRCh37
NC_000023.9:g.37527939T>C	NCBI36
NG_009065.1:g.8726T>C , LRG_53:g.8726T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.252+142T>C	ENSP00000512461.1:n.252+142T>C
ENST00000696171.1:c.156+142T>C	ENSP00000512462.1:n.156+142T>C
ENST00000696172.1:c.252+142T>C	ENSP00000512463.1:n.252+142T>C
ENST00000696173.1:n.260+142T>C
ENST00000378588.5:c.252+142T>C MANE Select	ENSP00000367851.4:n.252+142T>C
ENST00000378588.4:c.252+142T>C	ENSP00000367851.4:n.252+142T>C
ENST00000465127.1:c.171+357742T>C	ENSP00000417050.1:n.171+357742T>C
NM_000397.3:c.252+142T>C , LRG_53t1:c.252+142T>C	NP_000388.2:n.252+142T>C
XM_011543890.1:c.-179+142T>C	XP_011542192.1:n.-179+142T>C
NM_000397.4:c.252+142T>C MANE Select	NP_000388.2:n.252+142T>C