Canonical Allele Identifier: CA220285957
Gene: RCN1 HGNC NCBI
PAX6-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs115329259
gnomAD v2: 11-31884917-C-T
gnomAD v3: 11-31863371-C-T
gnomAD v4: 11-31863371-C-T
MyVariant Identifiers: chr11:g.31884917C>T (hg19) chr11:g.31863371C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.31863371C>T , CM000673.2:g.31863371C>T GRCh38
NC_000011.9:g.31884917C>T , CM000673.1:g.31884917C>T GRCh37
NC_000011.8:g.31841493C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000506388.2:n.75-21923C>T (RCN1)
ENST00000530348.5:c.-245+50874C>T (RCN1) ENSP00000436482.1:n.-245+50874C>T
ENST00000532942.5:c.101+46732C>T (RCN1) ENSP00000436422.1:n.101+46732C>T
NR_033971.1:n.75-21923C>T (PAX6-AS1)
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