Canonical Allele Identifier: CA399582706
Gene: CAVIN1 HGNC NCBI

Linked Data

dbSNP Id: rs2085432466

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404821C>G , CM000679.2:g.42404821C>G GRCh38
NC_000017.10:g.40556839C>G , CM000679.1:g.40556839C>G GRCh37
NC_000017.9:g.37810365C>G NCBI36
NG_015845.1:g.23500G>C
NG_015845.2:g.23500G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.1039G>C MANE Select ENSP00000349541.4:p.Asp347His
ENST00000357037.5:c.1039G>C ENSP00000349541.4:p.Asp347His
NM_012232.5:c.1039G>C NP_036364.2:p.Asp347His
NM_012232.6:c.1039G>C MANE Select NP_036364.2:p.Asp347His