Canonical Allele Identifier: CA10639689
Gene: CAVIN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 323277
ClinVar RCV Id: RCV000285549
dbSNP Id: rs374317281
gnomAD v2: 17-40556825-G-A
gnomAD v3: 17-42404807-G-A
gnomAD v4: 17-42404807-G-A
MyVariant Identifiers: chr17:g.40556825G>A (hg19) chr17:g.42404807G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404807G>A , CM000679.2:g.42404807G>A GRCh38
NC_000017.10:g.40556825G>A , CM000679.1:g.40556825G>A GRCh37
NC_000017.9:g.37810351G>A NCBI36
NG_015845.1:g.23514C>T
NG_015845.2:g.23514C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.1053C>T MANE Select ENSP00000349541.4:p.Gly351=
ENST00000357037.5:c.1053C>T ENSP00000349541.4:p.Gly351=
NM_012232.5:c.1053C>T NP_036364.2:p.Gly351=
NM_012232.6:c.1053C>T MANE Select NP_036364.2:p.Gly351=
Search 100 bp 5'
Search 100 bp 3'