Canonical Allele Identifier: CA5839691
Gene: HBB HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.5225635G>A
GRCh37 chr11:g.5246865G>A
Revel Score:
ENST00000335295 (MANE Select) 0.565
gnomAD v2:
11:5246865 G / A
gnomAD v4:
chr11-5225635-G-A
Joint Max Group AF 0.00003588 (SAS)
Exomes Max Group AF 0.00003765 (SAS)
ClinVar RCV:
RCV003479690
ClinVar Variation:
2682317
dbSNP:
35669628
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225635G>A , CM000673.2:g.5225635G>A GRCh38
NC_000011.9:g.5246865G>A , CM000673.1:g.5246865G>A GRCh37
NC_000011.8:g.5203441G>A NCBI36
NG_000007.3:g.71981C>T
NG_059281.1:g.6437C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.407C>T ENSP00000494175.1:p.Ala136Val
ENST00000335295.4:c.407C>T MANE Select ENSP00000333994.3:p.Ala136Val
ENST00000633227.1:c.*223C>T ENSP00000488004.1:n.*223C>T
NM_000518.4:c.407C>T NP_000509.1:p.Ala136Val
NM_000518.5:c.407C>T MANE Select NP_000509.1:p.Ala136Val
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