Canonical Allele Identifier: CA2637750200

Gene: SMARCE1

Linked Data

• gnomAD v4: 17-40628709-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628709C>G , CM000679.2:g.40628709C>G	GRCh38
NC_000017.10:g.38784961C>G , CM000679.1:g.38784961C>G	GRCh37
NC_000017.9:g.36038487C>G	NCBI36
NG_032163.1:g.24143G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*874G>C	ENSP00000466608.2:n.*874G>C
ENST00000348513.12:c.*76G>C MANE Select	ENSP00000323967.6:n.*76G>C
ENST00000377808.9:c.*299G>C	ENSP00000367039.4:n.*299G>C
ENST00000400122.8:c.*299G>C	ENSP00000411607.2:n.*299G>C
ENST00000469334.6:n.1910G>C
ENST00000578112.6:c.*1109G>C	ENSP00000464501.1:n.*1109G>C
ENST00000580419.6:c.*291G>C	ENSP00000462475.2:n.*291G>C
ENST00000642576.1:n.2455G>C
ENST00000643030.1:n.1935G>C
ENST00000643255.1:c.*3376G>C	ENSP00000493957.1:n.*3376G>C
ENST00000643318.1:c.*76G>C	ENSP00000494771.1:n.*76G>C
ENST00000643378.1:n.1867G>C
ENST00000643683.1:c.*76G>C	ENSP00000496094.1:n.*76G>C
ENST00000643893.1:n.1605G>C
ENST00000644443.1:n.3200G>C
ENST00000644523.1:n.1358G>C
ENST00000644527.1:c.*76G>C	ENSP00000493974.1:n.*76G>C
ENST00000644701.1:c.*299G>C	ENSP00000496097.1:n.*299G>C
ENST00000644909.1:c.*581G>C	ENSP00000493649.1:n.*581G>C
ENST00000645152.1:n.1975G>C
ENST00000645227.1:c.*1000G>C	ENSP00000495021.1:n.*1000G>C
ENST00000646242.1:n.7224G>C
ENST00000646283.1:c.*76G>C	ENSP00000494537.1:n.*76G>C
ENST00000646401.1:n.2678G>C
ENST00000646856.1:c.*1188G>C	ENSP00000494505.1:n.*1188G>C
ENST00000647294.1:c.*1242G>C	ENSP00000494815.1:n.*1242G>C
ENST00000647508.1:c.*76G>C	ENSP00000496445.1:n.*76G>C
ENST00000647515.1:c.*843G>C	ENSP00000495857.1:n.*843G>C
ENST00000348513.10:c.*76G>C	ENSP00000323967.6:n.*76G>C
ENST00000431889.6:c.*76G>C	ENSP00000445370.1:n.*76G>C
ENST00000469334.5:n.1899G>C
ENST00000578112.5:c.*1109G>C	ENSP00000464501.1:n.*1109G>C
NM_003079.4:c.*76G>C	NP_003070.3:n.*76G>C
NM_003079.5:c.*76G>C MANE Select	NP_003070.3:n.*76G>C