Canonical Allele Identifier: CA500215512
Gene: CAVIN1 HGNC NCBI

Linked Data

dbSNP Id: rs1348256500
gnomAD v2: 17-40556822-G-C
MyVariant Identifiers: chr17:g.40556822G>C (hg19) chr17:g.42404804G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404804G>C , CM000679.2:g.42404804G>C GRCh38
NC_000017.10:g.40556822G>C , CM000679.1:g.40556822G>C GRCh37
NC_000017.9:g.37810348G>C NCBI36
NG_015845.1:g.23517C>G
NG_015845.2:g.23517C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.1056C>G MANE Select ENSP00000349541.4:p.Gly352=
ENST00000357037.5:c.1056C>G ENSP00000349541.4:p.Gly352=
NM_012232.5:c.1056C>G NP_036364.2:p.Gly352=
NM_012232.6:c.1056C>G MANE Select NP_036364.2:p.Gly352=
Search 100 bp 5'
Search 100 bp 3'