Canonical Allele Identifier: CA7770223
Gene: HBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2428673
ClinVar RCV Id: RCV003120274
dbSNP Id: rs34220980
ExAC: 16:226716 A / G
gnomAD v2: 16-226716-A-G
gnomAD v3: 16-176717-A-G
gnomAD v4: 16-176717-A-G
MyVariant Identifiers: chr16:g.226716A>G (hg19) chr16:g.176717A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.176717A>G , CM000678.2:g.176717A>G GRCh38
NC_000016.9:g.226716A>G , CM000678.1:g.226716A>G GRCh37
NC_000016.8:g.166716A>G NCBI36
NG_000006.1:g.37580A>G
NG_059186.1:g.5067A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.1A>G MANE Select ENSP00000322421.5:p.Met1Val
ENST00000397797.1:c.-47A>G ENSP00000380899.1:n.-47A>G
ENST00000472694.1:n.20A>G
NM_000558.4:c.1A>G NP_000549.1:p.Met1Val
NM_000558.5:c.1A>G MANE Select NP_000549.1:p.Met1Val
Search 100 bp 5'
Search 100 bp 3'