Canonical Allele Identifier: CA4249194

Gene: ADCY1

Linked Data

• ClinVar Variation Id: 499489
• ClinVar RCV Id: RCV000591305 ; RCV000969214 ; RCV003952972
• dbSNP Id: rs75860455
• ExAC: 7:45725820 T / A
• gnomAD v2: 7-45725820-T-A
• gnomAD v3: 7-45686221-T-A
• gnomAD v4: 7-45686221-T-A
• MyVariant Identifiers: chr7:g.45725820T>A (hg19) ; chr7:g.45686221T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45686221T>A , CM000669.2:g.45686221T>A	GRCh38
NC_000007.13:g.45725820T>A , CM000669.1:g.45725820T>A	GRCh37
NC_000007.12:g.45692345T>A	NCBI36
NG_034198.1:g.117082T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297323.12:c.2327+6T>A MANE Select	ENSP00000297323.7:n.2327+6T>A
ENST00000297323.11:c.2327+6T>A	ENSP00000297323.7:n.2327+6T>A
NM_021116.2:c.2327+6T>A	NP_066939.1:n.2327+6T>A
XM_005249584.2:c.2327+6T>A	XP_005249641.1:n.2327+6T>A
NM_021116.3:c.2327+6T>A	NP_066939.1:n.2327+6T>A
XM_005249584.3:c.2327+6T>A	XP_005249641.1:n.2327+6T>A
NM_021116.4:c.2327+6T>A MANE Select	NP_066939.1:n.2327+6T>A