Canonical Allele Identifier: CA503523583
Gene: HRH4 HGNC NCBI

Linked Data

gnomAD v4: 18-24477037-G-A
MyVariant Identifiers: chr18:g.22057001G>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.24477037G>A , CM000680.2:g.24477037G>A GRCh38
NC_000018.9:g.22057001G>A , CM000680.1:g.22057001G>A GRCh37
NC_000018.8:g.20310999G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000256906.5:c.648G>A MANE Select ENSP00000256906.4:p.Leu216=
ENST00000256906.4:c.648G>A ENSP00000256906.4:p.Leu216=
ENST00000426880.2:c.384G>A ENSP00000402526.2:p.Leu128=
NM_001143828.1:c.384G>A NP_001137300.1:p.Leu128=
NM_001160166.1:c.*280G>A NP_001153638.1:n.*280G>A
NM_021624.3:c.648G>A NP_067637.2:p.Leu216=
XM_011526133.1:c.357+8086G>A XP_011524435.1:n.357+8086G>A
NM_021624.4:c.648G>A MANE Select NP_067637.2:p.Leu216=
NM_001143828.2:c.384G>A NP_001137300.1:p.Leu128=
NM_001160166.2:c.*280G>A NP_001153638.1:n.*280G>A
Search 100 bp 5'
Search 100 bp 3'