Canonical Allele Identifier: CA4248967

Gene: ADCY1

Linked Data

• ClinVar Variation Id: 517524
• ClinVar RCV Id: RCV000609489 ; RCV000991506 ; RCV003917970
• dbSNP Id: rs77524127
• ExAC: 7:45701653 G / T
• gnomAD v2: 7-45701653-G-T
• gnomAD v3: 7-45662054-G-T
• gnomAD v4: 7-45662054-G-T
• MyVariant Identifiers: chr7:g.45701653G>T (hg19) ; chr7:g.45662054G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45662054G>T , CM000669.2:g.45662054G>T	GRCh38
NC_000007.13:g.45701653G>T , CM000669.1:g.45701653G>T	GRCh37
NC_000007.12:g.45668178G>T	NCBI36
NG_034198.1:g.92915G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297323.12:c.1450-5G>T MANE Select	ENSP00000297323.7:n.1450-5G>T
ENST00000646653.1:n.391-5G>T
ENST00000297323.11:c.1450-5G>T	ENSP00000297323.7:n.1450-5G>T
ENST00000432715.5:c.775-5G>T	ENSP00000392721.1:n.775-5G>T
ENST00000621543.1:c.775-5G>T	ENSP00000479770.1:n.775-5G>T
NM_001281768.1:c.775-5G>T	NP_001268697.1:n.775-5G>T
NM_021116.2:c.1450-5G>T	NP_066939.1:n.1450-5G>T
XM_005249584.2:c.1450-5G>T	XP_005249641.1:n.1450-5G>T
XM_005249585.1:c.1450-5G>T	XP_005249642.1:n.1450-5G>T
NM_021116.3:c.1450-5G>T	NP_066939.1:n.1450-5G>T
XM_005249584.3:c.1450-5G>T	XP_005249641.1:n.1450-5G>T
XM_005249585.2:c.1450-5G>T	XP_005249642.1:n.1450-5G>T
NM_021116.4:c.1450-5G>T MANE Select	NP_066939.1:n.1450-5G>T
NM_001281768.2:c.775-5G>T	NP_001268697.1:n.775-5G>T