Canonical Allele Identifier: CA8919804
Gene: HRH4 HGNC NCBI

Linked Data

dbSNP Id: rs780120010
ExAC: 18:22056768 G / A
gnomAD v2: 18-22056768-G-A
gnomAD v3: 18-24476804-G-A
gnomAD v4: 18-24476804-G-A
MyVariant Identifiers: chr18:g.22056768G>A (hg19) chr18:g.24476804G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.24476804G>A , CM000680.2:g.24476804G>A GRCh38
NC_000018.9:g.22056768G>A , CM000680.1:g.22056768G>A GRCh37
NC_000018.8:g.20310766G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000256906.5:c.415G>A MANE Select ENSP00000256906.4:p.Val139Ile
ENST00000256906.4:c.415G>A ENSP00000256906.4:p.Val139Ile
ENST00000426880.2:c.194-43G>A ENSP00000402526.2:n.194-43G>A
NM_001143828.1:c.194-43G>A NP_001137300.1:n.194-43G>A
NM_001160166.1:c.*47G>A NP_001153638.1:n.*47G>A
NM_021624.3:c.415G>A NP_067637.2:p.Val139Ile
XM_011526133.1:c.357+7853G>A XP_011524435.1:n.357+7853G>A
NM_021624.4:c.415G>A MANE Select NP_067637.2:p.Val139Ile
NM_001143828.2:c.194-43G>A NP_001137300.1:n.194-43G>A
NM_001160166.2:c.*47G>A NP_001153638.1:n.*47G>A
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