Canonical Allele Identifier: CA509558306

Gene: SLC4A11

Linked Data

• gnomAD v4: 20-3228960-G-A
• MyVariant Identifiers: chr20:g.3209606G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3228960G>A , CM000682.2:g.3228960G>A	GRCh38
NC_000020.10:g.3209606G>A , CM000682.1:g.3209606G>A	GRCh37
NC_000020.9:g.3157606G>A	NCBI36
NG_017072.1:g.15282C>T
NG_012093.2:g.25094G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000642402.1:c.2070C>T MANE Select	ENSP00000493503.1:p.Ile690=
ENST00000644011.1:c.2001C>T	ENSP00000496214.1:p.Ile667=
ENST00000644692.1:c.1941C>T	ENSP00000493824.1:p.Ile647=
ENST00000647296.1:c.1956C>T	ENSP00000495050.1:p.Ile652=
ENST00000380056.7:c.2118C>T	ENSP00000369396.3:p.Ile706=
ENST00000380059.7:c.2199C>T	ENSP00000369399.3:p.Ile733=
ENST00000474451.5:c.*218C>T	ENSP00000476859.1:n.*218C>T
ENST00000488544.1:n.663C>T
ENST00000539553.6:c.2070C>T	ENSP00000441370.1:p.Ile690=
NM_001174089.1:c.2070C>T	NP_001167560.1:p.Ile690=
NM_001174090.1:c.2199C>T	NP_001167561.1:p.Ile733=
NM_032034.3:c.2118C>T	NP_114423.1:p.Ile706=
XM_005260856.3:c.2439C>T	XP_005260913.1:p.Ile813=
XM_005260857.1:c.2013C>T	XP_005260914.1:p.Ile671=
XM_011529383.1:c.2037C>T	XP_011527685.1:p.Ile679=
XM_011529384.1:c.2013C>T	XP_011527686.1:p.Ile671=
XM_011529385.1:c.2013C>T	XP_011527687.1:p.Ile671=
XR_937167.1:n.2168C>T
NM_001363745.1:c.1956C>T	NP_001350674.1:p.Ile652=
NR_135000.1:n.2168C>T
XM_005260856.5:c.2439C>T	XP_005260913.1:p.Ile813=
XM_011529383.3:c.2037C>T	XP_011527685.1:p.Ile679=
XM_017028093.1:c.2433C>T	XP_016883582.1:p.Ile811=
XM_017028094.1:c.2013C>T	XP_016883583.1:p.Ile671=
XM_017028096.1:c.2013C>T	XP_016883585.1:p.Ile671=
XR_001754419.1:n.2613C>T
XR_001754420.2:n.2593C>T
NM_001174089.2:c.2070C>T MANE Select	NP_001167560.1:p.Ile690=
NM_001363745.2:c.1956C>T	NP_001350674.1:p.Ile652=
NM_001174090.2:c.2199C>T	NP_001167561.1:p.Ile733=
NM_032034.4:c.2118C>T	NP_114423.1:p.Ile706=
NM_001400277.1:c.2013C>T	NP_001387206.1:p.Ile671=
NM_001400278.1:c.2013C>T	NP_001387207.1:p.Ile671=
NM_001400279.1:c.2013C>T	NP_001387208.1:p.Ile671=
NM_001400280.1:c.2085C>T	NP_001387209.1:p.Ile695=
NR_174470.1:n.2593C>T
NR_174471.1:n.2578C>T