Canonical Allele Identifier: CA798556645

Gene: SHROOM3

Linked Data

• dbSNP Id: rs1345030345
• gnomAD v3: 4-76476763-C-A
• gnomAD v4: 4-76476763-C-A
• MyVariant Identifiers: chr4:g.77397916C>A (hg19) ; chr4:g.76476763C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76476763C>A , CM000666.2:g.76476763C>A	GRCh38
NC_000004.11:g.77397916C>A , CM000666.1:g.77397916C>A	GRCh37
NC_000004.10:g.77616940C>A	NCBI36
NG_028077.1:g.46664C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000296043.7:c.168+40543C>A MANE Select	ENSP00000296043.6:n.168+40543C>A
ENST00000296043.6:c.168+40543C>A	ENSP00000296043.6:n.168+40543C>A
ENST00000466541.1:n.75+40543C>A
ENST00000497440.5:n.109+40543C>A
NM_020859.3:c.168+40543C>A	NP_065910.3:n.168+40543C>A
XM_005263162.3:c.168+40543C>A	XP_005263219.1:n.168+40543C>A
XM_011532158.1:c.168+40543C>A	XP_011530460.1:n.168+40543C>A
XM_011532159.1:c.168+40543C>A	XP_011530461.1:n.168+40543C>A
XM_011532158.3:c.168+40543C>A	XP_011530460.1:n.168+40543C>A
NM_020859.4:c.168+40543C>A MANE Select	NP_065910.3:n.168+40543C>A