Canonical Allele Identifier: CA297155811
Gene: HRH4 HGNC NCBI

Linked Data

dbSNP Id: rs953437853
gnomAD v2: 18-22056774-G-C
gnomAD v3: 18-24476810-G-C
gnomAD v4: 18-24476810-G-C
MyVariant Identifiers: chr18:g.22056774G>C (hg19) chr18:g.24476810G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.24476810G>C , CM000680.2:g.24476810G>C GRCh38
NC_000018.9:g.22056774G>C , CM000680.1:g.22056774G>C GRCh37
NC_000018.8:g.20310772G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000256906.5:c.421G>C MANE Select ENSP00000256906.4:p.Val141Leu
ENST00000256906.4:c.421G>C ENSP00000256906.4:p.Val141Leu
ENST00000426880.2:c.194-37G>C ENSP00000402526.2:n.194-37G>C
NM_001143828.1:c.194-37G>C NP_001137300.1:n.194-37G>C
NM_001160166.1:c.*53G>C NP_001153638.1:n.*53G>C
NM_021624.3:c.421G>C NP_067637.2:p.Val141Leu
XM_011526133.1:c.357+7859G>C XP_011524435.1:n.357+7859G>C
NM_021624.4:c.421G>C MANE Select NP_067637.2:p.Val141Leu
NM_001143828.2:c.194-37G>C NP_001137300.1:n.194-37G>C
NM_001160166.2:c.*53G>C NP_001153638.1:n.*53G>C
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