Canonical Allele Identifier: CA399582681
Gene: CAVIN1 HGNC NCBI

Linked Data

dbSNP Id: rs1325947124
gnomAD v2: 17-40556834-G-C
gnomAD v3: 17-42404816-G-C
gnomAD v4: 17-42404816-G-C
MyVariant Identifiers: chr17:g.40556834G>C (hg19) chr17:g.42404816G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404816G>C , CM000679.2:g.42404816G>C GRCh38
NC_000017.10:g.40556834G>C , CM000679.1:g.40556834G>C GRCh37
NC_000017.9:g.37810360G>C NCBI36
NG_015845.1:g.23505C>G
NG_015845.2:g.23505C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.1044C>G MANE Select ENSP00000349541.4:p.Asp348Glu
ENST00000357037.5:c.1044C>G ENSP00000349541.4:p.Asp348Glu
NM_012232.5:c.1044C>G NP_036364.2:p.Asp348Glu
NM_012232.6:c.1044C>G MANE Select NP_036364.2:p.Asp348Glu
Search 100 bp 5'
Search 100 bp 3'