Canonical Allele Identifier: CA10612409

Gene: SMARCAL1

Linked Data

• ClinVar Variation Id: 334280
• ClinVar RCV Id: RCV000265625
• dbSNP Id: rs3755141
• gnomAD v2: 2-217277249-C-T
• gnomAD v3: 2-216412526-C-T
• gnomAD v4: 2-216412526-C-T
• MyVariant Identifiers: chr2:g.217277249C>T (hg19) ; chr2:g.216412526C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216412526C>T , CM000664.2:g.216412526C>T	GRCh38
NC_000002.11:g.217277249C>T , CM000664.1:g.217277249C>T	GRCh37
NC_000002.10:g.216985494C>T	NCBI36
NG_009771.1:g.5113C>T , LRG_108:g.5113C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430374.6:c.-173C>T	ENSP00000405077.2:n.-173C>T
ENST00000444508.6:c.-304C>T	ENSP00000398969.2:n.-304C>T
ENST00000697898.1:n.144C>T
ENST00000697899.1:c.-218C>T	ENSP00000513470.1:n.-218C>T
ENST00000697900.1:n.59C>T
ENST00000697901.1:c.-218C>T	ENSP00000513471.1:n.-218C>T
ENST00000697902.1:n.15C>T
ENST00000697903.1:c.-218C>T	ENSP00000513472.1:n.-218C>T
ENST00000357276.9:c.-218C>T MANE Select	ENSP00000349823.4:n.-218C>T
ENST00000357276.8:c.-218C>T	ENSP00000349823.4:n.-218C>T
ENST00000430374.5:c.-173C>T	ENSP00000405077.1:n.-173C>T
ENST00000444508.5:c.-304C>T	ENSP00000398969.1:n.-304C>T
NM_014140.3:c.-218C>T , LRG_108t1:c.-218C>T	NP_054859.2:n.-218C>T
XM_005246631.2:c.-173C>T	XP_005246688.1:n.-173C>T
XM_005246632.1:c.-304C>T	XP_005246689.1:n.-304C>T
XM_006712557.1:c.-218C>T	XP_006712620.1:n.-218C>T
NM_014140.4:c.-218C>T MANE Select	NP_054859.2:n.-218C>T