Canonical Allele Identifier: CA4249432

Gene: ADCY1

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)

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=