Canonical Allele Identifier: CA12748973
Gene: CSMD1 HGNC NCBI
COSMIC:
COSN17601992 (not active)
MyVariant.info:
GRCh38 chr8:g.4285527G>A
GRCh37 chr8:g.4143049G>A
gnomAD v2:
8:4143049 G / A
gnomAD v3:
8:4285527 G / A
gnomAD v4:
chr8-4285527-G-A
Joint Max Group AF 0.33442446 (AMR)
Genomes Max Group AF 0.33442446 (AMR)
dbSNP:
10113352
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.4285527G>A , CM000670.2:g.4285527G>A GRCh38
NC_000008.10:g.4143049G>A , CM000670.1:g.4143049G>A GRCh37
NC_000008.9:g.4130457G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000635120.2:c.415+134426C>T MANE Select ENSP00000489225.1:n.415+134426C>T
ENST00000400186.7:c.415+134426C>T ENSP00000383047.3:n.415+134426C>T
ENST00000520002.5:c.415+134426C>T ENSP00000430733.1:n.415+134426C>T
ENST00000602557.5:c.415+134426C>T ENSP00000473359.1:n.415+134426C>T
ENST00000602723.5:c.415+134426C>T ENSP00000473617.1:n.415+134426C>T
ENST00000635120.1:c.415+134426C>T ENSP00000489225.1:n.415+134426C>T
NM_033225.5:c.415+134426C>T NP_150094.5:n.415+134426C>T
XM_011534752.1:c.415+134426C>T XP_011533054.1:n.415+134426C>T
XM_011534752.2:c.415+134426C>T XP_011533054.1:n.415+134426C>T
XM_017013731.1:c.415+134426C>T XP_016869220.1:n.415+134426C>T
NM_033225.6:c.415+134426C>T MANE Select NP_150094.5:n.415+134426C>T
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