Canonical Allele Identifier: CA1064325817

Gene: SHROOM3

Linked Data

• dbSNP Id: rs1731493548
• gnomAD v3: 4-76476800-G-T
• gnomAD v4: 4-76476800-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76476800G>T , CM000666.2:g.76476800G>T	GRCh38
NC_000004.11:g.77397953G>T , CM000666.1:g.77397953G>T	GRCh37
NC_000004.10:g.77616977G>T	NCBI36
NG_028077.1:g.46701G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000296043.7:c.168+40580G>T MANE Select	ENSP00000296043.6:n.168+40580G>T
ENST00000296043.6:c.168+40580G>T	ENSP00000296043.6:n.168+40580G>T
ENST00000466541.1:n.75+40580G>T
ENST00000497440.5:n.109+40580G>T
NM_020859.3:c.168+40580G>T	NP_065910.3:n.168+40580G>T
XM_005263162.3:c.168+40580G>T	XP_005263219.1:n.168+40580G>T
XM_011532158.1:c.168+40580G>T	XP_011530460.1:n.168+40580G>T
XM_011532159.1:c.168+40580G>T	XP_011530461.1:n.168+40580G>T
XM_011532158.3:c.168+40580G>T	XP_011530460.1:n.168+40580G>T
NM_020859.4:c.168+40580G>T MANE Select	NP_065910.3:n.168+40580G>T