Canonical Allele Identifier: CA171047640

Gene: CSMD1

Linked Data

• dbSNP Id: rs892443691
• gnomAD v3: 8-4428025-G-T
• gnomAD v4: 8-4428025-G-T
• MyVariant Identifiers: chr8:g.4285547G>T (hg19) ; chr8:g.4428025G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.4428025G>T , CM000670.2:g.4428025G>T	GRCh38
NC_000008.10:g.4285547G>T , CM000670.1:g.4285547G>T	GRCh37
NC_000008.9:g.4272955G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000635120.2:c.303-7960C>A MANE Select	ENSP00000489225.1:n.303-7960C>A
ENST00000400186.7:c.303-7960C>A	ENSP00000383047.3:n.303-7960C>A
ENST00000520002.5:c.303-7960C>A	ENSP00000430733.1:n.303-7960C>A
ENST00000602557.5:c.303-7960C>A	ENSP00000473359.1:n.303-7960C>A
ENST00000602723.5:c.303-7960C>A	ENSP00000473617.1:n.303-7960C>A
ENST00000635120.1:c.303-7960C>A	ENSP00000489225.1:n.303-7960C>A
NM_033225.5:c.303-7960C>A	NP_150094.5:n.303-7960C>A
XM_011534752.1:c.303-7960C>A	XP_011533054.1:n.303-7960C>A
XM_011534752.2:c.303-7960C>A	XP_011533054.1:n.303-7960C>A
XM_017013731.1:c.303-7960C>A	XP_016869220.1:n.303-7960C>A
NM_033225.6:c.303-7960C>A MANE Select	NP_150094.5:n.303-7960C>A