Canonical Allele Identifier: CA402083699
Gene: HRH4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.24477275C>T , CM000680.2:g.24477275C>T GRCh38
NC_000018.9:g.22057239C>T , CM000680.1:g.22057239C>T GRCh37
NC_000018.8:g.20311237C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000256906.5:c.886C>T MANE Select ENSP00000256906.4:p.Leu296Phe
ENST00000256906.4:c.886C>T ENSP00000256906.4:p.Leu296Phe
ENST00000426880.2:c.622C>T ENSP00000402526.2:p.Leu208Phe
NM_001143828.1:c.622C>T NP_001137300.1:p.Leu208Phe
NM_001160166.1:c.*518C>T NP_001153638.1:n.*518C>T
NM_021624.3:c.886C>T NP_067637.2:p.Leu296Phe
XM_011526133.1:c.357+8324C>T XP_011524435.1:n.357+8324C>T
NM_021624.4:c.886C>T MANE Select NP_067637.2:p.Leu296Phe
NM_001143828.2:c.622C>T NP_001137300.1:p.Leu208Phe
NM_001160166.2:c.*518C>T NP_001153638.1:n.*518C>T