Canonical Allele Identifier: CA100204498

Gene: SHROOM3

Linked Data

• dbSNP Id: rs749304135
• gnomAD v2: 4-77397908-T-C
• gnomAD v3: 4-76476755-T-C
• gnomAD v4: 4-76476755-T-C
• MyVariant Identifiers: chr4:g.77397908T>C (hg19) ; chr4:g.76476755T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76476755T>C , CM000666.2:g.76476755T>C	GRCh38
NC_000004.11:g.77397908T>C , CM000666.1:g.77397908T>C	GRCh37
NC_000004.10:g.77616932T>C	NCBI36
NG_028077.1:g.46656T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296043.7:c.168+40535T>C MANE Select	ENSP00000296043.6:n.168+40535T>C
ENST00000296043.6:c.168+40535T>C	ENSP00000296043.6:n.168+40535T>C
ENST00000466541.1:n.75+40535T>C
ENST00000497440.5:n.109+40535T>C
NM_020859.3:c.168+40535T>C	NP_065910.3:n.168+40535T>C
XM_005263162.3:c.168+40535T>C	XP_005263219.1:n.168+40535T>C
XM_011532158.1:c.168+40535T>C	XP_011530460.1:n.168+40535T>C
XM_011532159.1:c.168+40535T>C	XP_011530461.1:n.168+40535T>C
XM_011532158.3:c.168+40535T>C	XP_011530460.1:n.168+40535T>C
NM_020859.4:c.168+40535T>C MANE Select	NP_065910.3:n.168+40535T>C