Canonical Allele Identifier: CA402083073

Gene: HRH4

Linked Data

• MyVariant Identifiers: chr18:g.22056950G>C (hg19) ; chr18:g.24476986G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.24476986G>C , CM000680.2:g.24476986G>C	GRCh38
NC_000018.9:g.22056950G>C , CM000680.1:g.22056950G>C	GRCh37
NC_000018.8:g.20310948G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256906.5:c.597G>C MANE Select	ENSP00000256906.4:p.Trp199Cys
ENST00000256906.4:c.597G>C	ENSP00000256906.4:p.Trp199Cys
ENST00000426880.2:c.333G>C	ENSP00000402526.2:p.Trp111Cys
NM_001143828.1:c.333G>C	NP_001137300.1:p.Trp111Cys
NM_001160166.1:c.*229G>C	NP_001153638.1:n.*229G>C
NM_021624.3:c.597G>C	NP_067637.2:p.Trp199Cys
XM_011526133.1:c.357+8035G>C	XP_011524435.1:n.357+8035G>C
NM_021624.4:c.597G>C MANE Select	NP_067637.2:p.Trp199Cys
NM_001143828.2:c.333G>C	NP_001137300.1:p.Trp111Cys
NM_001160166.2:c.*229G>C	NP_001153638.1:n.*229G>C