Canonical Allele Identifier: CA402083540

Gene: HRH4

Linked Data

• gnomAD v4: 18-24477201-C-T
• MyVariant Identifiers: chr18:g.22057165C>T (hg19) ; chr18:g.24477201C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.24477201C>T , CM000680.2:g.24477201C>T	GRCh38
NC_000018.9:g.22057165C>T , CM000680.1:g.22057165C>T	GRCh37
NC_000018.8:g.20311163C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256906.5:c.812C>T MANE Select	ENSP00000256906.4:p.Thr271Ile
ENST00000256906.4:c.812C>T	ENSP00000256906.4:p.Thr271Ile
ENST00000426880.2:c.548C>T	ENSP00000402526.2:p.Thr183Ile
NM_001143828.1:c.548C>T	NP_001137300.1:p.Thr183Ile
NM_001160166.1:c.*444C>T	NP_001153638.1:n.*444C>T
NM_021624.3:c.812C>T	NP_067637.2:p.Thr271Ile
XM_011526133.1:c.357+8250C>T	XP_011524435.1:n.357+8250C>T
NM_021624.4:c.812C>T MANE Select	NP_067637.2:p.Thr271Ile
NM_001143828.2:c.548C>T	NP_001137300.1:p.Thr183Ile
NM_001160166.2:c.*444C>T	NP_001153638.1:n.*444C>T