Canonical Allele Identifier: CA2260466634
Gene: CAVIN1 HGNC NCBI

Linked Data

dbSNP Id: rs2085429405
gnomAD v4: 17-42404427-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404427C>G , CM000679.2:g.42404427C>G GRCh38
NC_000017.10:g.40556445C>G , CM000679.1:g.40556445C>G GRCh37
NC_000017.9:g.37809971C>G NCBI36
NG_015845.1:g.23894G>C
NG_015845.2:g.23894G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000357037.6:c.*260G>C MANE Select ENSP00000349541.4:n.*260G>C
ENST00000357037.5:c.*260G>C ENSP00000349541.4:n.*260G>C
NM_012232.5:c.*260G>C NP_036364.2:n.*260G>C
NM_012232.6:c.*260G>C MANE Select NP_036364.2:n.*260G>C
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