Canonical Allele Identifier: CA402083627
Gene: HRH4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.22057206G>C (hg19) chr18:g.24477242G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.24477242G>C , CM000680.2:g.24477242G>C GRCh38
NC_000018.9:g.22057206G>C , CM000680.1:g.22057206G>C GRCh37
NC_000018.8:g.20311204G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000256906.5:c.853G>C MANE Select ENSP00000256906.4:p.Val285Leu
ENST00000256906.4:c.853G>C ENSP00000256906.4:p.Val285Leu
ENST00000426880.2:c.589G>C ENSP00000402526.2:p.Val197Leu
NM_001143828.1:c.589G>C NP_001137300.1:p.Val197Leu
NM_001160166.1:c.*485G>C NP_001153638.1:n.*485G>C
NM_021624.3:c.853G>C NP_067637.2:p.Val285Leu
XM_011526133.1:c.357+8291G>C XP_011524435.1:n.357+8291G>C
NM_021624.4:c.853G>C MANE Select NP_067637.2:p.Val285Leu
NM_001143828.2:c.589G>C NP_001137300.1:p.Val197Leu
NM_001160166.2:c.*485G>C NP_001153638.1:n.*485G>C
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