Canonical Allele Identifier: CA170770309
Gene: CSMD1 HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.3570011A>C
GRCh37 chr8:g.3427533A>C
gnomAD v2:
8:3427533 A / C
gnomAD v3:
8:3570011 A / C
gnomAD v4:
chr8-3570011-A-C
Joint Max Group AF 0.00005281 (AMR)
Genomes Max Group AF 0.00005281 (AMR)
dbSNP:
995322
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.3570011A>C , CM000670.2:g.3570011A>C GRCh38
NC_000008.10:g.3427533A>C , CM000670.1:g.3427533A>C GRCh37
NC_000008.9:g.3414941A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000635120.2:c.1344+4934T>G MANE Select ENSP00000489225.1:n.1344+4934T>G
ENST00000400186.7:c.1347+4934T>G ENSP00000383047.3:n.1347+4934T>G
ENST00000520002.5:c.1347+4934T>G ENSP00000430733.1:n.1347+4934T>G
ENST00000537824.2:c.930+4934T>G ENSP00000441462.2:n.930+4934T>G
ENST00000602557.5:c.1347+4934T>G ENSP00000473359.1:n.1347+4934T>G
ENST00000602723.5:c.1347+4934T>G ENSP00000473617.1:n.1347+4934T>G
ENST00000635120.1:c.1344+4934T>G ENSP00000489225.1:n.1344+4934T>G
NM_033225.5:c.1344+4934T>G NP_150094.5:n.1344+4934T>G
XM_011534752.1:c.1344+4934T>G XP_011533054.1:n.1344+4934T>G
XM_011534752.2:c.1344+4934T>G XP_011533054.1:n.1344+4934T>G
XM_017013731.1:c.1344+4934T>G XP_016869220.1:n.1344+4934T>G
NM_033225.6:c.1344+4934T>G MANE Select NP_150094.5:n.1344+4934T>G
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