Canonical Allele Identifier: CA2637956052
Gene: CAVIN1 HGNC NCBI

Linked Data

gnomAD v4: 17-42404419-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404419T>C , CM000679.2:g.42404419T>C GRCh38
NC_000017.10:g.40556437T>C , CM000679.1:g.40556437T>C GRCh37
NC_000017.9:g.37809963T>C NCBI36
NG_015845.1:g.23902A>G
NG_015845.2:g.23902A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000357037.6:c.*268A>G MANE Select ENSP00000349541.4:n.*268A>G
ENST00000357037.5:c.*268A>G ENSP00000349541.4:n.*268A>G
NM_012232.5:c.*268A>G NP_036364.2:n.*268A>G
NM_012232.6:c.*268A>G MANE Select NP_036364.2:n.*268A>G
Search 100 bp 5'
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