Canonical Allele Identifier: CA640895201
Gene: CYBB HGNC NCBI

Linked Data

dbSNP Id: rs1473139853
gnomAD v2: X-37642995-T-C
gnomAD v4: X-37783742-T-C

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