Canonical Allele Identifier: CA100204518

Gene: SHROOM3

Linked Data

• dbSNP Id: rs755213941
• gnomAD v2: 4-77398143-C-G
• gnomAD v3: 4-76476990-C-G
• gnomAD v4: 4-76476990-C-G
• MyVariant Identifiers: chr4:g.77398143C>G (hg19) ; chr4:g.76476990C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76476990C>G , CM000666.2:g.76476990C>G	GRCh38
NC_000004.11:g.77398143C>G , CM000666.1:g.77398143C>G	GRCh37
NC_000004.10:g.77617167C>G	NCBI36
NG_028077.1:g.46891C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000296043.7:c.168+40770C>G MANE Select	ENSP00000296043.6:n.168+40770C>G
ENST00000296043.6:c.168+40770C>G	ENSP00000296043.6:n.168+40770C>G
ENST00000466541.1:n.75+40770C>G
ENST00000497440.5:n.109+40770C>G
NM_020859.3:c.168+40770C>G	NP_065910.3:n.168+40770C>G
XM_005263162.3:c.168+40770C>G	XP_005263219.1:n.168+40770C>G
XM_011532158.1:c.168+40770C>G	XP_011530460.1:n.168+40770C>G
XM_011532159.1:c.168+40770C>G	XP_011530461.1:n.168+40770C>G
XM_011532158.3:c.168+40770C>G	XP_011530460.1:n.168+40770C>G
NM_020859.4:c.168+40770C>G MANE Select	NP_065910.3:n.168+40770C>G