Canonical Allele Identifier: CA211912

Gene: BHLHA9

Linked Data

• ClinVar Variation Id: 162066
• ClinVar RCV Id: RCV000149487
• dbSNP Id: rs672601338
• gnomAD v3: 17-1270781-G-C
• gnomAD v4: 17-1270781-G-C
• MyVariant Identifiers: chr17:g.1174075G>C (hg19) ; chr17:g.1270781G>C (hg38)
• PubMed: PMID:9783716 ; PMID:25466284

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1270781G>C , CM000679.2:g.1270781G>C	GRCh38
NC_000017.10:g.1174075G>C , CM000679.1:g.1174075G>C	GRCh37
NC_000017.9:g.1120825G>C	NCBI36
NG_042055.1:g.5218G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391429.2:c.218G>C MANE Select	ENSP00000375248.1:p.Arg73Pro
ENST00000391429.1:c.218G>C	ENSP00000375248.1:p.Arg73Pro
NM_001164405.1:c.218G>C	NP_001157877.1:p.Arg73Pro
NM_001164405.2:c.218G>C MANE Select	NP_001157877.1:p.Arg73Pro