Canonical Allele Identifier: CA399582703
Gene: CAVIN1 HGNC NCBI

Linked Data

dbSNP Id: rs1259259564
gnomAD v4: 17-42404820-T-G
MyVariant Identifiers: chr17:g.40556838T>G (hg19) chr17:g.42404820T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404820T>G , CM000679.2:g.42404820T>G GRCh38
NC_000017.10:g.40556838T>G , CM000679.1:g.40556838T>G GRCh37
NC_000017.9:g.37810364T>G NCBI36
NG_015845.1:g.23501A>C
NG_015845.2:g.23501A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.1040A>C MANE Select ENSP00000349541.4:p.Asp347Ala
ENST00000357037.5:c.1040A>C ENSP00000349541.4:p.Asp347Ala
NM_012232.5:c.1040A>C NP_036364.2:p.Asp347Ala
NM_012232.6:c.1040A>C MANE Select NP_036364.2:p.Asp347Ala
Search 100 bp 5'
Search 100 bp 3'