Canonical Allele Identifier: CA12905469
Gene: CLVS1 HGNC NCBI
dbSNP:
10435604
gnomAD v2:
8:62152674 T / C
gnomAD v3:
8:61240115 T / C
gnomAD v4:
chr8-61240115-T-C
Joint Max Group AF 0.66608073 (EAS)
Genomes Max Group AF 0.66608073 (EAS)
MyVariant.info:
GRCh38 chr8:g.61240115T>C
GRCh37 chr8:g.62152674T>C
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.61240115T>C , CM000670.2:g.61240115T>C GRCh38
NC_000008.10:g.62152674T>C , CM000670.1:g.62152674T>C GRCh37
NC_000008.9:g.62315228T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000522621.1:c.-151-59562T>C ENSP00000428986.1:n.-151-59562T>C
XM_011517472.1:c.-151-59562T>C XP_011515774.1:n.-151-59562T>C
XM_017013141.2:c.-151-59562T>C XP_016868630.1:n.-151-59562T>C
XM_024447079.1:c.-288-52203T>C XP_024302847.1:n.-288-52203T>C
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