Canonical Allele Identifier: CA626050323
Gene: CAVIN1 HGNC NCBI

Linked Data

dbSNP Id: rs1443301019
gnomAD v2: 17-40556444-C-T
MyVariant Identifiers: chr17:g.40556444C>T (hg19) chr17:g.42404426C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404426C>T , CM000679.2:g.42404426C>T GRCh38
NC_000017.10:g.40556444C>T , CM000679.1:g.40556444C>T GRCh37
NC_000017.9:g.37809970C>T NCBI36
NG_015845.1:g.23895G>A
NG_015845.2:g.23895G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000357037.6:c.*261G>A MANE Select ENSP00000349541.4:n.*261G>A
ENST00000357037.5:c.*261G>A ENSP00000349541.4:n.*261G>A
NM_012232.5:c.*261G>A NP_036364.2:n.*261G>A
NM_012232.6:c.*261G>A MANE Select NP_036364.2:n.*261G>A
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