Canonical Allele Identifier: CA399581964

Gene: CAVIN1

Linked Data

• dbSNP Id: rs1224200603
• gnomAD v2: 17-40556716-C-A
• gnomAD v4: 17-42404698-C-A
• MyVariant Identifiers: chr17:g.40556716C>A (hg19) ; chr17:g.42404698C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42404698C>A , CM000679.2:g.42404698C>A	GRCh38
NC_000017.10:g.40556716C>A , CM000679.1:g.40556716C>A	GRCh37
NC_000017.9:g.37810242C>A	NCBI36
NG_015845.1:g.23623G>T
NG_015845.2:g.23623G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357037.6:c.1162G>T MANE Select	ENSP00000349541.4:p.Asp388Tyr
ENST00000357037.5:c.1162G>T	ENSP00000349541.4:p.Asp388Tyr
NM_012232.5:c.1162G>T	NP_036364.2:p.Asp388Tyr
NM_012232.6:c.1162G>T MANE Select	NP_036364.2:p.Asp388Tyr