Canonical Allele Identifier: CA503523696

Gene: HRH4

Linked Data

• COSMIC: COSM4979735
• MyVariant Identifiers: chr18:g.22057277C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.24477313C>G , CM000680.2:g.24477313C>G	GRCh38
NC_000018.9:g.22057277C>G , CM000680.1:g.22057277C>G	GRCh37
NC_000018.8:g.20311275C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256906.5:c.924C>G MANE Select	ENSP00000256906.4:p.Leu308=
ENST00000256906.4:c.924C>G	ENSP00000256906.4:p.Leu308=
ENST00000426880.2:c.660C>G	ENSP00000402526.2:p.Leu220=
NM_001143828.1:c.660C>G	NP_001137300.1:p.Leu220=
NM_001160166.1:c.*556C>G	NP_001153638.1:n.*556C>G
NM_021624.3:c.924C>G	NP_067637.2:p.Leu308=
XM_011526133.1:c.357+8362C>G	XP_011524435.1:n.357+8362C>G
NM_021624.4:c.924C>G MANE Select	NP_067637.2:p.Leu308=
NM_001143828.2:c.660C>G	NP_001137300.1:p.Leu220=
NM_001160166.2:c.*556C>G	NP_001153638.1:n.*556C>G