Canonical Allele Identifier: CA503523699

Gene: HRH4

Linked Data

• gnomAD v4: 18-24477314-T-C
• MyVariant Identifiers: chr18:g.22057278T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.24477314T>C , CM000680.2:g.24477314T>C	GRCh38
NC_000018.9:g.22057278T>C , CM000680.1:g.22057278T>C	GRCh37
NC_000018.8:g.20311276T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256906.5:c.925T>C MANE Select	ENSP00000256906.4:p.Leu309=
ENST00000256906.4:c.925T>C	ENSP00000256906.4:p.Leu309=
ENST00000426880.2:c.661T>C	ENSP00000402526.2:p.Leu221=
NM_001143828.1:c.661T>C	NP_001137300.1:p.Leu221=
NM_001160166.1:c.*557T>C	NP_001153638.1:n.*557T>C
NM_021624.3:c.925T>C	NP_067637.2:p.Leu309=
XM_011526133.1:c.357+8363T>C	XP_011524435.1:n.357+8363T>C
NM_021624.4:c.925T>C MANE Select	NP_067637.2:p.Leu309=
NM_001143828.2:c.661T>C	NP_001137300.1:p.Leu221=
NM_001160166.2:c.*557T>C	NP_001153638.1:n.*557T>C