Canonical Allele Identifier: CA12748973

Gene: CSMD1

Linked Data

• dbSNP Id: rs10113352
• gnomAD v2: 8-4143049-G-A
• gnomAD v3: 8-4285527-G-A
• gnomAD v4: 8-4285527-G-A
• MyVariant Identifiers: chr8:g.4143049G>A (hg19) ; chr8:g.4285527G>A (hg38)

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