Canonical Allele Identifier: CA12782161
Gene: CSMD1 HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.3630816A>G
GRCh37 chr8:g.3488338A>G
gnomAD v2:
8:3488338 A / G
gnomAD v3:
8:3630816 A / G
gnomAD v4:
chr8-3630816-A-G
Joint Max Group AF 0.62638771 (EAS)
Genomes Max Group AF 0.62638771 (EAS)
dbSNP:
2449215
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.3630816A>G , CM000670.2:g.3630816A>G GRCh38
NC_000008.10:g.3488338A>G , CM000670.1:g.3488338A>G GRCh37
NC_000008.9:g.3475746A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000635120.2:c.1010-14019T>C MANE Select ENSP00000489225.1:n.1010-14019T>C
ENST00000400186.7:c.1010-14019T>C ENSP00000383047.3:n.1010-14019T>C
ENST00000520002.5:c.1010-14019T>C ENSP00000430733.1:n.1010-14019T>C
ENST00000537824.2:c.596-14019T>C ENSP00000441462.2:n.596-14019T>C
ENST00000602557.5:c.1010-14019T>C ENSP00000473359.1:n.1010-14019T>C
ENST00000602723.5:c.1010-14019T>C ENSP00000473617.1:n.1010-14019T>C
ENST00000635120.1:c.1010-14019T>C ENSP00000489225.1:n.1010-14019T>C
NM_033225.5:c.1010-14019T>C NP_150094.5:n.1010-14019T>C
XM_011534752.1:c.1010-14019T>C XP_011533054.1:n.1010-14019T>C
XM_011534752.2:c.1010-14019T>C XP_011533054.1:n.1010-14019T>C
XM_017013731.1:c.1010-14019T>C XP_016869220.1:n.1010-14019T>C
NM_033225.6:c.1010-14019T>C MANE Select NP_150094.5:n.1010-14019T>C
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