Canonical Allele Identifier: CA286778989

Gene: BHLHA9

Linked Data

• ClinVar Variation Id: 501415
• ClinVar RCV Id: RCV000596561 ; RCV002531085
• dbSNP Id: rs551239535
• gnomAD v2: 17-1173973-C-A
• gnomAD v3: 17-1270679-C-A
• gnomAD v4: 17-1270679-C-A
• MyVariant Identifiers: chr17:g.1173973C>A (hg19) ; chr17:g.1270679C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1270679C>A , CM000679.2:g.1270679C>A	GRCh38
NC_000017.10:g.1173973C>A , CM000679.1:g.1173973C>A	GRCh37
NC_000017.9:g.1120723C>A	NCBI36
NG_042055.1:g.5116C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391429.2:c.116C>A MANE Select	ENSP00000375248.1:p.Ala39Glu
ENST00000391429.1:c.116C>A	ENSP00000375248.1:p.Ala39Glu
NM_001164405.1:c.116C>A	NP_001157877.1:p.Ala39Glu
NM_001164405.2:c.116C>A MANE Select	NP_001157877.1:p.Ala39Glu