Canonical Allele Identifier: CA402083560

Gene: HRH4

Linked Data

• MyVariant Identifiers: chr18:g.22057176A>C (hg19) ; chr18:g.24477212A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.24477212A>C , CM000680.2:g.24477212A>C	GRCh38
NC_000018.9:g.22057176A>C , CM000680.1:g.22057176A>C	GRCh37
NC_000018.8:g.20311174A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256906.5:c.823A>C MANE Select	ENSP00000256906.4:p.Lys275Gln
ENST00000256906.4:c.823A>C	ENSP00000256906.4:p.Lys275Gln
ENST00000426880.2:c.559A>C	ENSP00000402526.2:p.Lys187Gln
NM_001143828.1:c.559A>C	NP_001137300.1:p.Lys187Gln
NM_001160166.1:c.*455A>C	NP_001153638.1:n.*455A>C
NM_021624.3:c.823A>C	NP_067637.2:p.Lys275Gln
XM_011526133.1:c.357+8261A>C	XP_011524435.1:n.357+8261A>C
NM_021624.4:c.823A>C MANE Select	NP_067637.2:p.Lys275Gln
NM_001143828.2:c.559A>C	NP_001137300.1:p.Lys187Gln
NM_001160166.2:c.*455A>C	NP_001153638.1:n.*455A>C