Canonical Allele Identifier: CA8575761
Gene: CAVIN1 HGNC NCBI

Linked Data

dbSNP Id: rs762107498
ExAC: 17:40556855 C / T
gnomAD v2: 17-40556855-C-T
gnomAD v4: 17-42404837-C-T
MyVariant Identifiers: chr17:g.40556855C>T (hg19) chr17:g.42404837C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404837C>T , CM000679.2:g.42404837C>T GRCh38
NC_000017.10:g.40556855C>T , CM000679.1:g.40556855C>T GRCh37
NC_000017.9:g.37810381C>T NCBI36
NG_015845.1:g.23484G>A
NG_015845.2:g.23484G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.1023G>A MANE Select ENSP00000349541.4:p.Met341Ile
ENST00000357037.5:c.1023G>A ENSP00000349541.4:p.Met341Ile
NM_012232.5:c.1023G>A NP_036364.2:p.Met341Ile
NM_012232.6:c.1023G>A MANE Select NP_036364.2:p.Met341Ile
Search 100 bp 5'
Search 100 bp 3'