Canonical Allele Identifier: CA2574735786
Gene: HBG1 HGNC NCBI
HBG2 HGNC NCBI

Linked Data

gnomAD v4: 11-5249326-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5249326C>G , CM000673.2:g.5249326C>G GRCh38
NC_000011.9:g.5270556C>G , CM000673.1:g.5270556C>G GRCh37
NC_000011.8:g.5227132C>G NCBI36
NG_000007.3:g.48290G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000330597.5:c.315+42G>C (HBG1) MANE Select ENSP00000327431.4:n.315+42G>C
ENST00000642908.1:c.316-839G>C ENSP00000495346.1:n.316-839G>C
ENST00000647543.1:c.379-839G>C ENSP00000496470.1:n.379-839G>C
ENST00000648735.1:n.408G>C (HBG1)
ENST00000330597.3:c.315+42G>C (HBG1) ENSP00000327431.3:n.315+42G>C
ENST00000620888.4:c.316-839G>C (HBG2) ENSP00000479637.1:n.316-839G>C
ENST00000623781.1:c.43-45C>G ENSP00000485381.1:n.43-45C>G
ENST00000632727.1:c.*184+42G>C (HBG1) ENSP00000488759.1:n.*184+42G>C
NM_000559.2:c.315+42G>C (HBG1) NP_000550.2:n.315+42G>C
NM_000559.3:c.315+42G>C (HBG1) MANE Select NP_000550.2:n.315+42G>C
Search 100 bp 5'
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