Canonical Allele Identifier: CA399582263
Gene: CAVIN1 HGNC NCBI

Linked Data

gnomAD v4: 17-42404727-T-C
MyVariant Identifiers: chr17:g.40556745T>C (hg19) chr17:g.42404727T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404727T>C , CM000679.2:g.42404727T>C GRCh38
NC_000017.10:g.40556745T>C , CM000679.1:g.40556745T>C GRCh37
NC_000017.9:g.37810271T>C NCBI36
NG_015845.1:g.23594A>G
NG_015845.2:g.23594A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.1133A>G MANE Select ENSP00000349541.4:p.Glu378Gly
ENST00000357037.5:c.1133A>G ENSP00000349541.4:p.Glu378Gly
NM_012232.5:c.1133A>G NP_036364.2:p.Glu378Gly
NM_012232.6:c.1133A>G MANE Select NP_036364.2:p.Glu378Gly
Search 100 bp 5'
Search 100 bp 3'