Canonical Allele Identifier: CA2637750207

Gene: SMARCE1

Linked Data

• gnomAD v4: 17-40628718-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628718A>C , CM000679.2:g.40628718A>C	GRCh38
NC_000017.10:g.38784970A>C , CM000679.1:g.38784970A>C	GRCh37
NC_000017.9:g.36038496A>C	NCBI36
NG_032163.1:g.24134T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*865T>G	ENSP00000466608.2:n.*865T>G
ENST00000348513.12:c.*67T>G MANE Select	ENSP00000323967.6:n.*67T>G
ENST00000377808.9:c.*290T>G	ENSP00000367039.4:n.*290T>G
ENST00000400122.8:c.*290T>G	ENSP00000411607.2:n.*290T>G
ENST00000469334.6:n.1901T>G
ENST00000578112.6:c.*1100T>G	ENSP00000464501.1:n.*1100T>G
ENST00000580419.6:c.*282T>G	ENSP00000462475.2:n.*282T>G
ENST00000642576.1:n.2446T>G
ENST00000643030.1:n.1926T>G
ENST00000643255.1:c.*3367T>G	ENSP00000493957.1:n.*3367T>G
ENST00000643318.1:c.*67T>G	ENSP00000494771.1:n.*67T>G
ENST00000643378.1:n.1858T>G
ENST00000643683.1:c.*67T>G	ENSP00000496094.1:n.*67T>G
ENST00000643893.1:n.1596T>G
ENST00000644443.1:n.3191T>G
ENST00000644523.1:n.1349T>G
ENST00000644527.1:c.*67T>G	ENSP00000493974.1:n.*67T>G
ENST00000644701.1:c.*290T>G	ENSP00000496097.1:n.*290T>G
ENST00000644909.1:c.*572T>G	ENSP00000493649.1:n.*572T>G
ENST00000645152.1:n.1966T>G
ENST00000645227.1:c.*991T>G	ENSP00000495021.1:n.*991T>G
ENST00000646242.1:n.7215T>G
ENST00000646283.1:c.*67T>G	ENSP00000494537.1:n.*67T>G
ENST00000646401.1:n.2669T>G
ENST00000646856.1:c.*1179T>G	ENSP00000494505.1:n.*1179T>G
ENST00000647294.1:c.*1233T>G	ENSP00000494815.1:n.*1233T>G
ENST00000647508.1:c.*67T>G	ENSP00000496445.1:n.*67T>G
ENST00000647515.1:c.*834T>G	ENSP00000495857.1:n.*834T>G
ENST00000348513.10:c.*67T>G	ENSP00000323967.6:n.*67T>G
ENST00000431889.6:c.*67T>G	ENSP00000445370.1:n.*67T>G
ENST00000469334.5:n.1890T>G
ENST00000578112.5:c.*1100T>G	ENSP00000464501.1:n.*1100T>G
NM_003079.4:c.*67T>G	NP_003070.3:n.*67T>G
NM_003079.5:c.*67T>G MANE Select	NP_003070.3:n.*67T>G