Canonical Allele Identifier: CA4484959
Gene: CPA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 258477
ClinVar RCV Id: RCV000241762 RCV001312152 RCV002256184
dbSNP Id: rs201705049
ExAC: 7:130024982 C / G
gnomAD v2: 7-130024982-C-G
gnomAD v3: 7-130385141-C-G
gnomAD v4: 7-130385141-C-G
MyVariant Identifiers: chr7:g.130024982C>G (hg19) chr7:g.130385141C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.130385141C>G , CM000669.2:g.130385141C>G GRCh38
NC_000007.13:g.130024982C>G , CM000669.1:g.130024982C>G GRCh37
NC_000007.12:g.129812218C>G NCBI36
NG_042276.1:g.9771C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000011292.8:c.788-5C>G MANE Select ENSP00000011292.3:n.788-5C>G
ENST00000011292.7:c.788-5C>G ENSP00000011292.3:n.788-5C>G
ENST00000476062.5:c.524-5C>G ENSP00000419408.1:n.524-5C>G
ENST00000478096.1:n.507C>G
ENST00000479106.1:n.1358C>G
ENST00000484324.1:c.524-5C>G ENSP00000419497.1:n.524-5C>G
ENST00000604896.5:c.344-5C>G ENSP00000475021.1:n.344-5C>G
NM_001868.3:c.788-5C>G NP_001859.1:n.788-5C>G
NM_001868.4:c.788-5C>G MANE Select NP_001859.1:n.788-5C>G
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