Canonical Allele Identifier: CA4249432
Gene: ADCY1 HGNC NCBI

Linked Data

ClinVar Variation Id: 517532
ClinVar RCV Id: RCV000607464 RCV001653948 RCV001549075
dbSNP Id: rs2293106
ExAC: 7:45753324 G / A
gnomAD v2: 7-45753324-G-A
gnomAD v3: 7-45713725-G-A
gnomAD v4: 7-45713725-G-A
MyVariant Identifiers: chr7:g.45753324G>A (hg19) chr7:g.45713725G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.45713725G>A , CM000669.2:g.45713725G>A GRCh38
NC_000007.13:g.45753324G>A , CM000669.1:g.45753324G>A GRCh37
NC_000007.12:g.45719849G>A NCBI36
NG_034198.1:g.144586G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297323.12:c.3090G>A MANE Select ENSP00000297323.7:p.Arg1030=
ENST00000297323.11:c.3090G>A ENSP00000297323.7:p.Arg1030=
NM_021116.2:c.3090G>A NP_066939.1:p.Arg1030=
XM_005249584.2:c.*25G>A XP_005249641.1:n.*25G>A
NM_021116.3:c.3090G>A NP_066939.1:p.Arg1030=
XM_005249584.3:c.*25G>A XP_005249641.1:n.*25G>A
NM_021116.4:c.3090G>A MANE Select NP_066939.1:p.Arg1030=
Search 100 bp 5'
Search 100 bp 3'