Canonical Allele Identifier: CA217115650
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 495986
dbSNP Id: rs33941849
gnomAD v4: 11-5227020-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5227020A>T , CM000673.2:g.5227020A>T GRCh38
NC_000011.9:g.5248250A>T , CM000673.1:g.5248250A>T GRCh37
NC_000011.8:g.5204826A>T NCBI36
NG_000007.3:g.70596T>A
NG_059281.1:g.5052T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.2T>A ENSP00000494175.1:p.Met1Lys
ENST00000335295.4:c.2T>A MANE Select ENSP00000333994.3:p.Met1Lys
ENST00000380315.2:c.2T>A ENSP00000369671.2:p.Met1Lys
ENST00000485743.1:n.53T>A
ENST00000633227.1:c.2T>A ENSP00000488004.1:p.Met1Lys
NM_000518.4:c.2T>A NP_000509.1:p.Met1Lys
NM_000518.5:c.2T>A MANE Select NP_000509.1:p.Met1Lys