Canonical Allele Identifier: CA2594068986
Gene: CAVIN1 HGNC NCBI

Linked Data

dbSNP Id: rs2145470473
gnomAD v3: 17-42404408-G-A
gnomAD v4: 17-42404408-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404408G>A , CM000679.2:g.42404408G>A GRCh38
NC_000017.10:g.40556426G>A , CM000679.1:g.40556426G>A GRCh37
NC_000017.9:g.37809952G>A NCBI36
NG_015845.1:g.23913C>T
NG_015845.2:g.23913C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000357037.6:c.*279C>T MANE Select ENSP00000349541.4:n.*279C>T
ENST00000357037.5:c.*279C>T ENSP00000349541.4:n.*279C>T
NM_012232.5:c.*279C>T NP_036364.2:n.*279C>T
NM_012232.6:c.*279C>T MANE Select NP_036364.2:n.*279C>T
Search 100 bp 5'
Search 100 bp 3'