Canonical Allele Identifier: CA399582720
Gene: CAVIN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404824C>G , CM000679.2:g.42404824C>G GRCh38
NC_000017.10:g.40556842C>G , CM000679.1:g.40556842C>G GRCh37
NC_000017.9:g.37810368C>G NCBI36
NG_015845.1:g.23497G>C
NG_015845.2:g.23497G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.1036G>C MANE Select ENSP00000349541.4:p.Ala346Pro
ENST00000357037.5:c.1036G>C ENSP00000349541.4:p.Ala346Pro
NM_012232.5:c.1036G>C NP_036364.2:p.Ala346Pro
NM_012232.6:c.1036G>C MANE Select NP_036364.2:p.Ala346Pro