Canonical Allele Identifier: CA8575748
Gene: CAVIN1 HGNC NCBI

Linked Data

dbSNP Id: rs753774660
ExAC: 17:40556767 C / G
gnomAD v2: 17-40556767-C-G
gnomAD v3: 17-42404749-C-G
gnomAD v4: 17-42404749-C-G
MyVariant Identifiers: chr17:g.40556767C>G (hg19) chr17:g.42404749C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404749C>G , CM000679.2:g.42404749C>G GRCh38
NC_000017.10:g.40556767C>G , CM000679.1:g.40556767C>G GRCh37
NC_000017.9:g.37810293C>G NCBI36
NG_015845.1:g.23572G>C
NG_015845.2:g.23572G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.1111G>C MANE Select ENSP00000349541.4:p.Ala371Pro
ENST00000357037.5:c.1111G>C ENSP00000349541.4:p.Ala371Pro
NM_012232.5:c.1111G>C NP_036364.2:p.Ala371Pro
NM_012232.6:c.1111G>C MANE Select NP_036364.2:p.Ala371Pro
Search 100 bp 5'
Search 100 bp 3'