Canonical Allele Identifier: CA1554278

Gene: ADCY3

Linked Data

• ClinVar Variation Id: 1601037
• ClinVar RCV Id: RCV002136743
• dbSNP Id: rs2241758
• ExAC: 2:25064157 G / C
• gnomAD v2: 2-25064157-G-C
• gnomAD v3: 2-24841288-G-C
• gnomAD v4: 2-24841288-G-C
• MyVariant Identifiers: chr2:g.25064157G>C (hg19) ; chr2:g.24841288G>C (hg38)
• Allelic Epigenome: Alellic Epigenome (raw data)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.24841288G>C , CM000664.2:g.24841288G>C	GRCh38
NC_000002.11:g.25064157G>C , CM000664.1:g.25064157G>C	GRCh37
NC_000002.10:g.24917661G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405392.6:c.1167C>G	ENSP00000384484.2:p.Leu389=
ENST00000679454.1:c.1167C>G MANE Select	ENSP00000505261.1:p.Leu389=
ENST00000260600.9:c.1167C>G	ENSP00000260600.5:p.Leu389=
ENST00000405392.5:c.1167C>G	ENSP00000384484.2:p.Leu389=
ENST00000427849.5:c.435C>G	ENSP00000399275.1:p.Leu145=
ENST00000435135.5:c.1017C>G	ENSP00000389799.1:p.Leu339=
ENST00000479517.1:n.550C>G
ENST00000606682.5:c.180C>G	ENSP00000475652.1:p.Leu60=
NM_004036.3:c.1167C>G	NP_004027.2:p.Leu389=
XM_005264104.1:c.1167C>G	XP_005264161.1:p.Leu389=
XM_005264105.1:c.1167C>G	XP_005264162.1:p.Leu389=
XM_006711925.1:c.1167C>G	XP_006711988.1:p.Leu389=
XM_011532489.1:c.1167C>G	XP_011530791.1:p.Leu389=
XM_011532490.1:c.1167C>G	XP_011530792.1:p.Leu389=
XM_011532491.1:c.1167C>G	XP_011530793.1:p.Leu389=
XM_011532492.1:c.1167C>G	XP_011530794.1:p.Leu389=
XM_011532493.1:c.1167C>G	XP_011530795.1:p.Leu389=
XM_011532494.1:c.1167C>G	XP_011530796.1:p.Leu389=
XM_011532495.1:c.501C>G	XP_011530797.1:p.Leu167=
XM_011532496.1:c.444C>G	XP_011530798.1:p.Leu148=
NM_001320613.1:c.1167C>G	NP_001307542.1:p.Leu389=
NM_004036.4:c.1167C>G	NP_004027.2:p.Leu389=
XM_011532492.2:c.1167C>G	XP_011530794.1:p.Leu389=
XM_017003186.1:c.1167C>G	XP_016858675.1:p.Leu389=
XM_017003187.1:c.1167C>G	XP_016858676.1:p.Leu389=
XM_017003188.1:c.1167C>G	XP_016858677.1:p.Leu389=
XM_017003189.1:c.1167C>G	XP_016858678.1:p.Leu389=
XM_017003190.1:c.1167C>G	XP_016858679.1:p.Leu389=
XM_017003191.1:c.531C>G	XP_016858680.1:p.Leu177=
XM_017003192.1:c.444C>G	XP_016858681.1:p.Leu148=
XM_017003193.1:c.444C>G	XP_016858682.1:p.Leu148=
NM_001320613.2:c.1167C>G	NP_001307542.1:p.Leu389=
NM_001377128.1:c.1167C>G	NP_001364057.1:p.Leu389=
NM_001377129.1:c.1167C>G	NP_001364058.1:p.Leu389=
NM_001377130.1:c.1167C>G	NP_001364059.1:p.Leu389=
NM_001377131.1:c.444C>G	NP_001364060.1:p.Leu148=
NM_001377132.1:c.1167C>G	NP_001364061.1:p.Leu389=
NM_004036.5:c.1167C>G MANE Select	NP_004027.2:p.Leu389=