Canonical Allele Identifier: CA8575871
Gene: CAVIN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 323279
ClinVar RCV Id: RCV000404894 RCV001174431 RCV001311888
dbSNP Id: rs148239625
ExAC: 17:40574654 C / G
gnomAD v2: 17-40574654-C-G
gnomAD v3: 17-42422636-C-G
gnomAD v4: 17-42422636-C-G
MyVariant Identifiers: chr17:g.40574654C>G (hg19) chr17:g.42422636C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42422636C>G , CM000679.2:g.42422636C>G GRCh38
NC_000017.10:g.40574654C>G , CM000679.1:g.40574654C>G GRCh37
NC_000017.9:g.37828180C>G NCBI36
NG_015845.1:g.5685G>C
NG_015845.2:g.5685G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000357037.6:c.462G>C MANE Select ENSP00000349541.4:p.Met154Ile
ENST00000357037.5:c.462G>C ENSP00000349541.4:p.Met154Ile
NM_012232.5:c.462G>C NP_036364.2:p.Met154Ile
XM_005257242.2:c.462G>C XP_005257299.1:p.Met154Ile
XM_005257242.4:c.462G>C XP_005257299.1:p.Met154Ile
NM_012232.6:c.462G>C MANE Select NP_036364.2:p.Met154Ile
Search 100 bp 5'
Search 100 bp 3'