Canonical Allele Identifier: CA408087096

Gene: SLC4A11

Linked Data

• dbSNP Id: rs1470305092
• gnomAD v2: 20-3209611-T-C
• gnomAD v3: 20-3228965-T-C
• gnomAD v4: 20-3228965-T-C
• MyVariant Identifiers: chr20:g.3209611T>C (hg19) ; chr20:g.3228965T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3228965T>C , CM000682.2:g.3228965T>C	GRCh38
NC_000020.10:g.3209611T>C , CM000682.1:g.3209611T>C	GRCh37
NC_000020.9:g.3157611T>C	NCBI36
NG_017072.1:g.15277A>G
NG_012093.2:g.25099T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000642402.1:c.2065A>G MANE Select	ENSP00000493503.1:p.Ile689Val
ENST00000644011.1:c.1996A>G	ENSP00000496214.1:p.Ile666Val
ENST00000644692.1:c.1936A>G	ENSP00000493824.1:p.Ile646Val
ENST00000647296.1:c.1951A>G	ENSP00000495050.1:p.Ile651Val
ENST00000380056.7:c.2113A>G	ENSP00000369396.3:p.Ile705Val
ENST00000380059.7:c.2194A>G	ENSP00000369399.3:p.Ile732Val
ENST00000474451.5:c.*213A>G	ENSP00000476859.1:n.*213A>G
ENST00000488544.1:n.658A>G
ENST00000539553.6:c.2065A>G	ENSP00000441370.1:p.Ile689Val
NM_001174089.1:c.2065A>G	NP_001167560.1:p.Ile689Val
NM_001174090.1:c.2194A>G	NP_001167561.1:p.Ile732Val
NM_032034.3:c.2113A>G	NP_114423.1:p.Ile705Val
XM_005260856.3:c.2434A>G	XP_005260913.1:p.Ile812Val
XM_005260857.1:c.2008A>G	XP_005260914.1:p.Ile670Val
XM_011529383.1:c.2032A>G	XP_011527685.1:p.Ile678Val
XM_011529384.1:c.2008A>G	XP_011527686.1:p.Ile670Val
XM_011529385.1:c.2008A>G	XP_011527687.1:p.Ile670Val
XR_937167.1:n.2163A>G
NM_001363745.1:c.1951A>G	NP_001350674.1:p.Ile651Val
NR_135000.1:n.2163A>G
XM_005260856.5:c.2434A>G	XP_005260913.1:p.Ile812Val
XM_011529383.3:c.2032A>G	XP_011527685.1:p.Ile678Val
XM_017028093.1:c.2428A>G	XP_016883582.1:p.Ile810Val
XM_017028094.1:c.2008A>G	XP_016883583.1:p.Ile670Val
XM_017028096.1:c.2008A>G	XP_016883585.1:p.Ile670Val
XR_001754419.1:n.2608A>G
XR_001754420.2:n.2588A>G
NM_001174089.2:c.2065A>G MANE Select	NP_001167560.1:p.Ile689Val
NM_001363745.2:c.1951A>G	NP_001350674.1:p.Ile651Val
NM_001174090.2:c.2194A>G	NP_001167561.1:p.Ile732Val
NM_032034.4:c.2113A>G	NP_114423.1:p.Ile705Val
NM_001400277.1:c.2008A>G	NP_001387206.1:p.Ile670Val
NM_001400278.1:c.2008A>G	NP_001387207.1:p.Ile670Val
NM_001400279.1:c.2008A>G	NP_001387208.1:p.Ile670Val
NM_001400280.1:c.2080A>G	NP_001387209.1:p.Ile694Val
NR_174470.1:n.2588A>G
NR_174471.1:n.2573A>G