Canonical Allele Identifier: CA5839698
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 1301331
ClinVar RCV Id: RCV001733373 RCV003698869
dbSNP Id: rs780307221
ExAC: 11:5246900 G / A
gnomAD v2: 11-5246900-G-A
gnomAD v4: 11-5225670-G-A
COSMIC: COSM4491021
MyVariant Identifiers: chr11:g.5246900G>A (hg19) chr11:g.5225670G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225670G>A , CM000673.2:g.5225670G>A GRCh38
NC_000011.9:g.5246900G>A , CM000673.1:g.5246900G>A GRCh37
NC_000011.8:g.5203476G>A NCBI36
NG_000007.3:g.71946C>T
NG_059281.1:g.6402C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.372C>T ENSP00000494175.1:p.Thr124=
ENST00000335295.4:c.372C>T MANE Select ENSP00000333994.3:p.Thr124=
ENST00000475226.1:n.304C>T
ENST00000633227.1:c.*188C>T ENSP00000488004.1:n.*188C>T
NM_000518.4:c.372C>T NP_000509.1:p.Thr124=
NM_000518.5:c.372C>T MANE Select NP_000509.1:p.Thr124=
Search 100 bp 5'
Search 100 bp 3'