Canonical Allele Identifier: CA628691068

Gene: HRH4

Linked Data

• dbSNP Id: rs1214695527
• gnomAD v2: 18-22049612-C-A
• gnomAD v3: 18-24469648-C-A
• gnomAD v4: 18-24469648-C-A
• MyVariant Identifiers: chr18:g.22049612C>A (hg19) ; chr18:g.24469648C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.24469648C>A , CM000680.2:g.24469648C>A	GRCh38
NC_000018.9:g.22049612C>A , CM000680.1:g.22049612C>A	GRCh37
NC_000018.8:g.20303610C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256906.5:c.357+697C>A MANE Select	ENSP00000256906.4:n.357+697C>A
ENST00000256906.4:c.357+697C>A	ENSP00000256906.4:n.357+697C>A
ENST00000426880.2:c.194-7199C>A	ENSP00000402526.2:n.194-7199C>A
NM_001143828.1:c.194-7199C>A	NP_001137300.1:n.194-7199C>A
NM_001160166.1:c.194-7099C>A	NP_001153638.1:n.194-7099C>A
NM_021624.3:c.357+697C>A	NP_067637.2:n.357+697C>A
XM_011526133.1:c.357+697C>A	XP_011524435.1:n.357+697C>A
XM_011526134.1:c.357+697C>A	XP_011524436.1:n.357+697C>A
NM_021624.4:c.357+697C>A MANE Select	NP_067637.2:n.357+697C>A
NM_001143828.2:c.194-7199C>A	NP_001137300.1:n.194-7199C>A
NM_001160166.2:c.194-7099C>A	NP_001153638.1:n.194-7099C>A