Canonical Allele Identifier: CA402083638
Gene: HRH4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.22057212C>A (hg19) chr18:g.24477248C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.24477248C>A , CM000680.2:g.24477248C>A GRCh38
NC_000018.9:g.22057212C>A , CM000680.1:g.22057212C>A GRCh37
NC_000018.8:g.20311210C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000256906.5:c.859C>A MANE Select ENSP00000256906.4:p.Leu287Ile
ENST00000256906.4:c.859C>A ENSP00000256906.4:p.Leu287Ile
ENST00000426880.2:c.595C>A ENSP00000402526.2:p.Leu199Ile
NM_001143828.1:c.595C>A NP_001137300.1:p.Leu199Ile
NM_001160166.1:c.*491C>A NP_001153638.1:n.*491C>A
NM_021624.3:c.859C>A NP_067637.2:p.Leu287Ile
XM_011526133.1:c.357+8297C>A XP_011524435.1:n.357+8297C>A
NM_021624.4:c.859C>A MANE Select NP_067637.2:p.Leu287Ile
NM_001143828.2:c.595C>A NP_001137300.1:p.Leu199Ile
NM_001160166.2:c.*491C>A NP_001153638.1:n.*491C>A
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