Canonical Allele Identifier: CA626050245
Gene: CAVIN1 HGNC NCBI

Linked Data

dbSNP Id: rs4796582
gnomAD v2: 17-40555114-A-T
gnomAD v3: 17-42403096-A-T
gnomAD v4: 17-42403096-A-T
MyVariant Identifiers: chr17:g.40555114A>T (hg19) chr17:g.42403096A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42403096A>T , CM000679.2:g.42403096A>T GRCh38
NC_000017.10:g.40555114A>T , CM000679.1:g.40555114A>T GRCh37
NC_000017.9:g.37808640A>T NCBI36
NG_015845.1:g.25225T>A
NG_015845.2:g.25225T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000357037.6:c.*1591T>A MANE Select ENSP00000349541.4:n.*1591T>A
ENST00000357037.5:c.*1591T>A ENSP00000349541.4:n.*1591T>A
NM_012232.5:c.*1591T>A NP_036364.2:n.*1591T>A
NM_012232.6:c.*1591T>A MANE Select NP_036364.2:n.*1591T>A
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