Canonical Allele Identifier: CA124963
Gene: HBB HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.5226694C>G
GRCh37 chr11:g.5247924C>G
Revel Score:
ENST00000335295 (MANE Select) 0.568
ENST00000380315 0.568
gnomAD v4:
chr11-5226694-C-G
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar RCV:
RCV000016425
ClinVar Variation:
15227
dbSNP:
35747961
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226694C>G , CM000673.2:g.5226694C>G GRCh38
NC_000011.9:g.5247924C>G , CM000673.1:g.5247924C>G GRCh37
NC_000011.8:g.5204500C>G NCBI36
NG_000007.3:g.70922G>C
NG_059281.1:g.5378G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.198G>C ENSP00000494175.1:p.Lys66Asn
ENST00000335295.4:c.198G>C MANE Select ENSP00000333994.3:p.Lys66Asn
ENST00000380315.2:c.198G>C ENSP00000369671.2:p.Lys66Asn
ENST00000475226.1:n.130G>C
ENST00000485743.1:n.249G>C
ENST00000633227.1:c.*14G>C ENSP00000488004.1:n.*14G>C
NM_000518.4:c.198G>C NP_000509.1:p.Lys66Asn
NM_000518.5:c.198G>C MANE Select NP_000509.1:p.Lys66Asn
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