Canonical Allele Identifier: CA399582073

Gene: CAVIN1

Linked Data

• dbSNP Id: rs1310606560
• gnomAD v2: 17-40556725-C-G
• gnomAD v4: 17-42404707-C-G
• MyVariant Identifiers: chr17:g.40556725C>G (hg19) ; chr17:g.42404707C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42404707C>G , CM000679.2:g.42404707C>G	GRCh38
NC_000017.10:g.40556725C>G , CM000679.1:g.40556725C>G	GRCh37
NC_000017.9:g.37810251C>G	NCBI36
NG_015845.1:g.23614G>C
NG_015845.2:g.23614G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357037.6:c.1153G>C MANE Select	ENSP00000349541.4:p.Asp385His
ENST00000357037.5:c.1153G>C	ENSP00000349541.4:p.Asp385His
NM_012232.5:c.1153G>C	NP_036364.2:p.Asp385His
NM_012232.6:c.1153G>C MANE Select	NP_036364.2:p.Asp385His