Canonical Allele Identifier: CA8575738
Gene: CAVIN1 HGNC NCBI

Linked Data

dbSNP Id: rs530328827
ExAC: 17:40556657 G / A
gnomAD v2: 17-40556657-G-A
gnomAD v3: 17-42404639-G-A
gnomAD v4: 17-42404639-G-A
MyVariant Identifiers: chr17:g.40556657G>A (hg19) chr17:g.42404639G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404639G>A , CM000679.2:g.42404639G>A GRCh38
NC_000017.10:g.40556657G>A , CM000679.1:g.40556657G>A GRCh37
NC_000017.9:g.37810183G>A NCBI36
NG_015845.1:g.23682C>T
NG_015845.2:g.23682C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.*48C>T MANE Select ENSP00000349541.4:n.*48C>T
ENST00000357037.5:c.*48C>T ENSP00000349541.4:n.*48C>T
NM_012232.5:c.*48C>T NP_036364.2:n.*48C>T
NM_012232.6:c.*48C>T MANE Select NP_036364.2:n.*48C>T
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