Canonical Allele Identifier: CA399582410
Gene: CAVIN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.40556768G>C (hg19) chr17:g.42404750G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404750G>C , CM000679.2:g.42404750G>C GRCh38
NC_000017.10:g.40556768G>C , CM000679.1:g.40556768G>C GRCh37
NC_000017.9:g.37810294G>C NCBI36
NG_015845.1:g.23571C>G
NG_015845.2:g.23571C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.1110C>G MANE Select ENSP00000349541.4:p.His370Gln
ENST00000357037.5:c.1110C>G ENSP00000349541.4:p.His370Gln
NM_012232.5:c.1110C>G NP_036364.2:p.His370Gln
NM_012232.6:c.1110C>G MANE Select NP_036364.2:p.His370Gln
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