Canonical Allele Identifier: CA499962889

Gene: SMARCE1

Linked Data

• ClinVar Variation Id: 1123959
• ClinVar RCV Id: RCV001455192 ; RCV002414090
• dbSNP Id: rs2143980837
• gnomAD v4: 17-40628959-T-C
• MyVariant Identifiers: chr17:g.38785211T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628959T>C , CM000679.2:g.40628959T>C	GRCh38
NC_000017.10:g.38785211T>C , CM000679.1:g.38785211T>C	GRCh37
NC_000017.9:g.36038737T>C	NCBI36
NG_032163.1:g.23893A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*624A>G	ENSP00000466608.2:n.*624A>G
ENST00000348513.12:c.1062A>G MANE Select	ENSP00000323967.6:p.Gln354=
ENST00000377808.9:c.*49A>G	ENSP00000367039.4:n.*49A>G
ENST00000400122.8:c.*49A>G	ENSP00000411607.2:n.*49A>G
ENST00000469334.6:n.1660A>G
ENST00000578044.6:c.852A>G	ENSP00000464511.1:p.Gln284=
ENST00000578112.6:c.*859A>G	ENSP00000464501.1:n.*859A>G
ENST00000580419.6:c.*41A>G	ENSP00000462475.2:n.*41A>G
ENST00000642576.1:n.2205A>G
ENST00000643030.1:n.1685A>G
ENST00000643255.1:c.*3126A>G	ENSP00000493957.1:n.*3126A>G
ENST00000643318.1:c.852A>G	ENSP00000494771.1:p.Gln284=
ENST00000643378.1:n.1617A>G
ENST00000643683.1:c.1062A>G	ENSP00000496094.1:p.Gln354=
ENST00000643893.1:n.1355A>G
ENST00000644443.1:n.2950A>G
ENST00000644523.1:n.1108A>G
ENST00000644527.1:c.834A>G	ENSP00000493974.1:p.Gln278=
ENST00000644701.1:c.*49A>G	ENSP00000496097.1:n.*49A>G
ENST00000644909.1:c.*331A>G	ENSP00000493649.1:n.*331A>G
ENST00000645152.1:n.1725A>G
ENST00000645227.1:c.*750A>G	ENSP00000495021.1:n.*750A>G
ENST00000646242.1:n.6974A>G
ENST00000646283.1:c.870A>G	ENSP00000494537.1:p.Gln290=
ENST00000646401.1:n.2428A>G
ENST00000646448.1:n.2336A>G
ENST00000646856.1:c.*938A>G	ENSP00000494505.1:n.*938A>G
ENST00000647294.1:c.*992A>G	ENSP00000494815.1:n.*992A>G
ENST00000647508.1:c.957A>G	ENSP00000496445.1:p.Gln319=
ENST00000647515.1:c.*593A>G	ENSP00000495857.1:n.*593A>G
ENST00000348513.10:c.1062A>G	ENSP00000323967.6:p.Gln354=
ENST00000377808.8:c.*49A>G	ENSP00000367039.4:n.*49A>G
ENST00000400122.7:c.*49A>G	ENSP00000411607.2:n.*49A>G
ENST00000431889.6:c.1008A>G	ENSP00000445370.1:p.Gln336=
ENST00000469334.5:n.1649A>G
ENST00000476049.1:c.*1410A>G	ENSP00000463483.1:n.*1410A>G
ENST00000578044.5:c.852A>G	ENSP00000464511.1:p.Gln284=
ENST00000578112.5:c.*859A>G	ENSP00000464501.1:n.*859A>G
ENST00000580419.5:c.957A>G	ENSP00000462475.1:p.Gln319=
NM_003079.4:c.1062A>G	NP_003070.3:p.Gln354=
NM_003079.5:c.1062A>G MANE Select	NP_003070.3:p.Gln354=