Canonical Allele Identifier: CA934688744

Gene: HBD

Linked Data

• dbSNP Id: rs1847719114
• gnomAD v3: 11-5234658-G-C
• gnomAD v4: 11-5234658-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5234658G>C , CM000673.2:g.5234658G>C	GRCh38
NC_000011.9:g.5255888G>C , CM000673.1:g.5255888G>C	GRCh37
NC_000011.8:g.5212464G>C	NCBI36
NG_000007.3:g.62958C>G
NG_063112.2:g.14000C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643122.1:c.-28-197C>G	ENSP00000494708.1:n.-28-197C>G
ENST00000429817.1:c.-97-128C>G	ENSP00000393810.1:n.-97-128C>G