Canonical Allele Identifier: CA2637954686
Gene: CAVIN1 HGNC NCBI

Linked Data

gnomAD v4: 17-42403100-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42403100C>G , CM000679.2:g.42403100C>G GRCh38
NC_000017.10:g.40555118C>G , CM000679.1:g.40555118C>G GRCh37
NC_000017.9:g.37808644C>G NCBI36
NG_015845.1:g.25221G>C
NG_015845.2:g.25221G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000357037.6:c.*1587G>C MANE Select ENSP00000349541.4:n.*1587G>C
ENST00000357037.5:c.*1587G>C ENSP00000349541.4:n.*1587G>C
NM_012232.5:c.*1587G>C NP_036364.2:n.*1587G>C
NM_012232.6:c.*1587G>C MANE Select NP_036364.2:n.*1587G>C
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