Canonical Allele Identifier: CA7770239
Gene: HBA1 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.176850C>T
GRCh37 chr16:g.226849C>T
gnomAD v2:
16:226849 C / T
gnomAD v3:
16:176850 C / T
gnomAD v4:
chr16-176850-C-T
Joint Max Group AF 0.05628578 (AFR)
Genomes Max Group AF 0.0546744 (AFR)
Exomes Max Group AF 0.05715078 (AFR)
ClinVar Allele:
432866
ClinVar RCV:
RCV000505961
RCV001275685
RCV001692154
ClinVar Variation:
439106
dbSNP:
577938658
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.176850C>T , CM000678.2:g.176850C>T GRCh38
NC_000016.9:g.226849C>T , CM000678.1:g.226849C>T GRCh37
NC_000016.8:g.166849C>T NCBI36
NG_000006.1:g.37713C>T
NG_059186.1:g.5200C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.95+39C>T MANE Select ENSP00000322421.5:n.95+39C>T
ENST00000397797.1:c.-1-79C>T ENSP00000380899.1:n.-1-79C>T
ENST00000472694.1:n.153C>T
ENST00000487791.1:n.64+39C>T
NM_000558.4:c.95+39C>T NP_000549.1:n.95+39C>T
NM_000558.5:c.95+39C>T MANE Select NP_000549.1:n.95+39C>T
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