Canonical Allele Identifier: CA351472824

Gene: HRH1

Linked Data

• dbSNP Id: rs1249742576
• gnomAD v2: 3-11301535-C-T
• gnomAD v4: 3-11259849-C-T
• MyVariant Identifiers: chr3:g.11301535C>T (hg19) ; chr3:g.11259849C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.11259849C>T , CM000665.2:g.11259849C>T	GRCh38
NC_000003.11:g.11301535C>T , CM000665.1:g.11301535C>T	GRCh37
NC_000003.10:g.11276535C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000431010.3:c.812C>T MANE Select	ENSP00000397028.2:p.Ser271Phe
ENST00000397056.1:c.812C>T	ENSP00000380247.1:p.Ser271Phe
ENST00000431010.2:c.812C>T	ENSP00000397028.2:p.Ser271Phe
ENST00000438284.2:c.812C>T	ENSP00000406705.2:p.Ser271Phe
NM_000861.3:c.812C>T	NP_000852.1:p.Ser271Phe
NM_001098211.1:c.812C>T	NP_001091681.1:p.Ser271Phe
NM_001098212.1:c.812C>T	NP_001091682.1:p.Ser271Phe
NM_001098213.1:c.812C>T	NP_001091683.1:p.Ser271Phe
XM_011533652.1:c.812C>T	XP_011531954.1:p.Ser271Phe
XM_011533653.1:c.812C>T	XP_011531955.1:p.Ser271Phe
XM_011533654.1:c.812C>T	XP_011531956.1:p.Ser271Phe
XM_011533655.1:c.812C>T	XP_011531957.1:p.Ser271Phe
XM_011533653.2:c.812C>T	XP_011531955.1:p.Ser271Phe
XM_017006283.1:c.812C>T	XP_016861772.1:p.Ser271Phe
XM_017006284.1:c.812C>T	XP_016861773.1:p.Ser271Phe
NM_001098211.2:c.812C>T	NP_001091681.1:p.Ser271Phe
NM_001098212.2:c.812C>T MANE Select	NP_001091682.1:p.Ser271Phe
NM_001098213.2:c.812C>T	NP_001091683.1:p.Ser271Phe