Canonical Allele Identifier: CA399582757
Gene: CAVIN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404835A>G , CM000679.2:g.42404835A>G GRCh38
NC_000017.10:g.40556853A>G , CM000679.1:g.40556853A>G GRCh37
NC_000017.9:g.37810379A>G NCBI36
NG_015845.1:g.23486T>C
NG_015845.2:g.23486T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.1025T>C MANE Select ENSP00000349541.4:p.Val342Ala
ENST00000357037.5:c.1025T>C ENSP00000349541.4:p.Val342Ala
NM_012232.5:c.1025T>C NP_036364.2:p.Val342Ala
NM_012232.6:c.1025T>C MANE Select NP_036364.2:p.Val342Ala