Allele Registry

Canonical Allele Identifier: CA3898748

Gene: HTR1B HGNC NCBI

Linked Data - Expert Curation

COSMIC:

COSM5021530 (not active)

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chr6:g.77462543C>G

GRCh37 chr6:g.78172260C>G

Linked Data - Sequence & Population

gnomAD v2:

6:78172260 C / G

gnomAD v3:

6:77462543 C / G

gnomAD v4:

chr6-77462543-C-G

Joint Max Group AF 0.47282979 (EAS)

Genomes Max Group AF 0.4817824 (EAS)

Exomes Max Group AF 0.46996255 (EAS)

Linked Data - NCBI & NCI

dbSNP:

6296

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.77462543C>G , CM000668.2:g.77462543C>G	GRCh38
NC_000006.11:g.78172260C>G , CM000668.1:g.78172260C>G	GRCh37
NC_000006.10:g.78228979C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369947.5:c.861G>C MANE Select	ENSP00000358963.3:p.Val287=
ENST00000369947.3:c.861G>C	ENSP00000358963.2:p.Val287=
NM_000863.1:c.861G>C	NP_000854.1:p.Val287=
NM_000863.2:c.861G>C	NP_000854.1:p.Val287=
XR_942706.1:n.545-11983C>G
XR_942707.1:n.545-11983C>G
XR_942708.1:n.545-11983C>G
XR_942709.1:n.545-11983C>G
XR_942708.2:n.545-11983C>G
NM_000863.3:c.861G>C MANE Select	NP_000854.1:p.Val287=

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