Canonical Allele Identifier: CA399583612
Gene: CAVIN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.40557043T>C (hg19) chr17:g.42405025T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42405025T>C , CM000679.2:g.42405025T>C GRCh38
NC_000017.10:g.40557043T>C , CM000679.1:g.40557043T>C GRCh37
NC_000017.9:g.37810569T>C NCBI36
NG_015845.1:g.23296A>G
NG_015845.2:g.23296A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000357037.6:c.835A>G MANE Select ENSP00000349541.4:p.Thr279Ala
ENST00000357037.5:c.835A>G ENSP00000349541.4:p.Thr279Ala
NM_012232.5:c.835A>G NP_036364.2:p.Thr279Ala
NM_012232.6:c.835A>G MANE Select NP_036364.2:p.Thr279Ala
Search 100 bp 5'
Search 100 bp 3'