Canonical Allele Identifier: CA124687
Gene: HBD HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.5234080G>C
GRCh37 chr11:g.5255310G>C
Revel Score:
ENST00000292901 0.584
ENST00000380299 0.584
ENST00000429817 0.584
gnomAD v2:
11:5255310 G / C
gnomAD v3:
11:5234080 G / C
gnomAD v4:
chr11-5234080-G-C
Joint Max Group AF 0.00002548 (AFR)
Genomes Max Group AF 0.00003246 (AFR)
ClinVar RCV:
RCV000016226
RCV000016227
ClinVar Variation:
15074
dbSNP:
34430836
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5234080G>C , CM000673.2:g.5234080G>C GRCh38
NC_000011.9:g.5255310G>C , CM000673.1:g.5255310G>C GRCh37
NC_000011.8:g.5211886G>C NCBI36
NG_000007.3:g.63536C>G
NG_063112.2:g.14578C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000643122.1:c.226C>G ENSP00000494708.1:p.Leu76Val
ENST00000650601.1:c.226C>G MANE Select ENSP00000497529.1:p.Leu76Val
ENST00000292901.7:c.226C>G ENSP00000292901.3:p.Leu76Val
ENST00000380299.3:c.226C>G ENSP00000369654.3:p.Leu76Val
ENST00000417377.1:c.92+262C>G ENSP00000414741.1:n.92+262C>G
ENST00000429817.1:c.226C>G ENSP00000393810.1:p.Leu76Val
NM_000519.3:c.226C>G NP_000510.1:p.Leu76Val
NM_000519.4:c.226C>G MANE Select NP_000510.1:p.Leu76Val
Search 100 bp 5'
Search 100 bp 3'