Canonical Allele Identifier: CA597436132
Gene: HBB HGNC NCBI

Linked Data

dbSNP Id: rs1186575711
gnomAD v2: 11-5248084-C-G
gnomAD v3: 11-5226854-C-G
gnomAD v4: 11-5226854-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226854C>G , CM000673.2:g.5226854C>G GRCh38
NC_000011.9:g.5248084C>G , CM000673.1:g.5248084C>G GRCh37
NC_000011.8:g.5204660C>G NCBI36
NG_000007.3:g.70762G>C
NG_059281.1:g.5218G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.93-55G>C ENSP00000494175.1:n.93-55G>C
ENST00000335295.4:c.93-55G>C MANE Select ENSP00000333994.3:n.93-55G>C
ENST00000380315.2:c.93-55G>C ENSP00000369671.2:n.93-55G>C
ENST00000485743.1:n.144-55G>C
ENST00000633227.1:c.77-55G>C ENSP00000488004.1:n.77-55G>C
NM_000518.4:c.93-55G>C NP_000509.1:n.93-55G>C
NM_000518.5:c.93-55G>C MANE Select NP_000509.1:n.93-55G>C