Canonical Allele Identifier: CA290750121

Gene: CAVIN1

Linked Data

• dbSNP Id: rs541244244
• gnomAD v2: 17-40556634-G-C
• gnomAD v3: 17-42404616-G-C
• gnomAD v4: 17-42404616-G-C
• MyVariant Identifiers: chr17:g.40556634G>C (hg19) ; chr17:g.42404616G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42404616G>C , CM000679.2:g.42404616G>C	GRCh38
NC_000017.10:g.40556634G>C , CM000679.1:g.40556634G>C	GRCh37
NC_000017.9:g.37810160G>C	NCBI36
NG_015845.1:g.23705C>G
NG_015845.2:g.23705C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357037.6:c.*71C>G MANE Select	ENSP00000349541.4:n.*71C>G
ENST00000357037.5:c.*71C>G	ENSP00000349541.4:n.*71C>G
NM_012232.5:c.*71C>G	NP_036364.2:n.*71C>G
NM_012232.6:c.*71C>G MANE Select	NP_036364.2:n.*71C>G