Canonical Allele Identifier: CA9742305

Gene: SLC4A11

Linked Data

• ClinVar Variation Id: 1650830
• ClinVar RCV Id: RCV002149217
• dbSNP Id: rs368495310
• ExAC: 20:3214846 G / A
• gnomAD v2: 20-3214846-G-A
• gnomAD v3: 20-3234200-G-A
• gnomAD v4: 20-3234200-G-A
• MyVariant Identifiers: chr20:g.3214846G>A (hg19) ; chr20:g.3234200G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3234200G>A , CM000682.2:g.3234200G>A	GRCh38
NC_000020.10:g.3214846G>A , CM000682.1:g.3214846G>A	GRCh37
NC_000020.9:g.3162846G>A	NCBI36
NG_017072.1:g.10042C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642402.1:c.406C>T MANE Select	ENSP00000493503.1:p.Leu136=
ENST00000644011.1:c.337C>T	ENSP00000496214.1:p.Leu113=
ENST00000644692.1:c.349C>T	ENSP00000493824.1:p.Leu117=
ENST00000647296.1:c.406C>T	ENSP00000495050.1:p.Leu136=
ENST00000380056.7:c.454C>T	ENSP00000369396.3:p.Leu152=
ENST00000380059.7:c.535C>T	ENSP00000369399.3:p.Leu179=
ENST00000474451.5:c.349C>T	ENSP00000476859.1:p.Leu117=
ENST00000539553.6:c.406C>T	ENSP00000441370.1:p.Leu136=
NM_001174089.1:c.406C>T	NP_001167560.1:p.Leu136=
NM_001174090.1:c.535C>T	NP_001167561.1:p.Leu179=
NM_032034.3:c.454C>T	NP_114423.1:p.Leu152=
XM_005260856.3:c.889C>T	XP_005260913.1:p.Leu297=
XM_005260857.1:c.349C>T	XP_005260914.1:p.Leu117=
XM_011529383.1:c.373C>T	XP_011527685.1:p.Leu125=
XM_011529384.1:c.349C>T	XP_011527686.1:p.Leu117=
XM_011529385.1:c.349C>T	XP_011527687.1:p.Leu117=
XM_011529386.1:c.889C>T	XP_011527688.1:p.Leu297=
XR_937167.1:n.574C>T
NM_001363745.1:c.406C>T	NP_001350674.1:p.Leu136=
NR_135000.1:n.574C>T
XM_005260856.5:c.889C>T	XP_005260913.1:p.Leu297=
XM_011529383.3:c.373C>T	XP_011527685.1:p.Leu125=
XM_017028093.1:c.889C>T	XP_016883582.1:p.Leu297=
XM_017028094.1:c.349C>T	XP_016883583.1:p.Leu117=
XM_017028096.1:c.349C>T	XP_016883585.1:p.Leu117=
XM_017028097.1:c.889C>T	XP_016883586.1:p.Leu297=
XR_001754419.1:n.999C>T
XR_001754420.2:n.999C>T
NM_001174089.2:c.406C>T MANE Select	NP_001167560.1:p.Leu136=
NM_001363745.2:c.406C>T	NP_001350674.1:p.Leu136=
NM_001174090.2:c.535C>T	NP_001167561.1:p.Leu179=
NM_032034.4:c.454C>T	NP_114423.1:p.Leu152=
NM_001400277.1:c.349C>T	NP_001387206.1:p.Leu117=
NM_001400278.1:c.349C>T	NP_001387207.1:p.Leu117=
NM_001400279.1:c.349C>T	NP_001387208.1:p.Leu117=
NM_001400280.1:c.535C>T	NP_001387209.1:p.Leu179=
NR_174470.1:n.964C>T
NR_174471.1:n.964C>T