Canonical Allele Identifier: CA402083765

Gene: HRH4

Linked Data

• gnomAD v4: 18-24477306-C-T
• MyVariant Identifiers: chr18:g.22057270C>T (hg19) ; chr18:g.24477306C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.24477306C>T , CM000680.2:g.24477306C>T	GRCh38
NC_000018.9:g.22057270C>T , CM000680.1:g.22057270C>T	GRCh37
NC_000018.8:g.20311268C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256906.5:c.917C>T MANE Select	ENSP00000256906.4:p.Ala306Val
ENST00000256906.4:c.917C>T	ENSP00000256906.4:p.Ala306Val
ENST00000426880.2:c.653C>T	ENSP00000402526.2:p.Ala218Val
NM_001143828.1:c.653C>T	NP_001137300.1:p.Ala218Val
NM_001160166.1:c.*549C>T	NP_001153638.1:n.*549C>T
NM_021624.3:c.917C>T	NP_067637.2:p.Ala306Val
XM_011526133.1:c.357+8355C>T	XP_011524435.1:n.357+8355C>T
NM_021624.4:c.917C>T MANE Select	NP_067637.2:p.Ala306Val
NM_001143828.2:c.653C>T	NP_001137300.1:p.Ala218Val
NM_001160166.2:c.*549C>T	NP_001153638.1:n.*549C>T