Canonical Allele Identifier: CA2637956041
Gene: CAVIN1 HGNC NCBI

Linked Data

gnomAD v4: 17-42404407-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404407T>G , CM000679.2:g.42404407T>G GRCh38
NC_000017.10:g.40556425T>G , CM000679.1:g.40556425T>G GRCh37
NC_000017.9:g.37809951T>G NCBI36
NG_015845.1:g.23914A>C
NG_015845.2:g.23914A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000357037.6:c.*280A>C MANE Select ENSP00000349541.4:n.*280A>C
ENST00000357037.5:c.*280A>C ENSP00000349541.4:n.*280A>C
NM_012232.5:c.*280A>C NP_036364.2:n.*280A>C
NM_012232.6:c.*280A>C MANE Select NP_036364.2:n.*280A>C
Search 100 bp 5'
Search 100 bp 3'