Canonical Allele Identifier: CA375415311

Gene: DBH

Linked Data

• ClinVar Variation Id: 837428
• ClinVar RCV Id: RCV001038760
• dbSNP Id: rs1832155416
• gnomAD v3: 9-133644245-C-T
• gnomAD v4: 9-133644245-C-T
• COSMIC: COSM5410644
• MyVariant Identifiers: chr9:g.136509367C>T (hg19) ; chr9:g.133644245C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133644245C>T , CM000671.2:g.133644245C>T	GRCh38
NC_000009.11:g.136509367C>T , CM000671.1:g.136509367C>T	GRCh37
NC_000009.10:g.135499188C>T	NCBI36
NG_008645.1:g.12883C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393056.8:c.949C>T MANE Select	ENSP00000376776.2:p.Leu317Phe
ENST00000393056.6:c.949C>T	ENSP00000376776.2:p.Leu317Phe
NM_000787.3:c.949C>T	NP_000778.3:p.Leu317Phe
NM_000787.4:c.949C>T MANE Select	NP_000778.3:p.Leu317Phe