Canonical Allele Identifier: CA408086791

Gene: SLC4A11

Linked Data

• gnomAD v4: 20-3228865-C-G
• MyVariant Identifiers: chr20:g.3209511C>G (hg19) ; chr20:g.3228865C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3228865C>G , CM000682.2:g.3228865C>G	GRCh38
NC_000020.10:g.3209511C>G , CM000682.1:g.3209511C>G	GRCh37
NC_000020.9:g.3157511C>G	NCBI36
NG_017072.1:g.15377G>C
NG_012093.2:g.24999C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000642402.1:c.2165G>C MANE Select	ENSP00000493503.1:p.Arg722Pro
ENST00000644011.1:c.2096G>C	ENSP00000496214.1:p.Arg699Pro
ENST00000644692.1:c.2036G>C	ENSP00000493824.1:p.Arg679Pro
ENST00000647296.1:c.2051G>C	ENSP00000495050.1:p.Arg684Pro
ENST00000380056.7:c.2213G>C	ENSP00000369396.3:p.Arg738Pro
ENST00000380059.7:c.2294G>C	ENSP00000369399.3:p.Arg765Pro
ENST00000474451.5:c.*313G>C	ENSP00000476859.1:n.*313G>C
ENST00000539553.6:c.2165G>C	ENSP00000441370.1:p.Arg722Pro
NM_001174089.1:c.2165G>C	NP_001167560.1:p.Arg722Pro
NM_001174090.1:c.2294G>C	NP_001167561.1:p.Arg765Pro
NM_032034.3:c.2213G>C	NP_114423.1:p.Arg738Pro
XM_005260856.3:c.2534G>C	XP_005260913.1:p.Arg845Pro
XM_005260857.1:c.2108G>C	XP_005260914.1:p.Arg703Pro
XM_011529383.1:c.2132G>C	XP_011527685.1:p.Arg711Pro
XM_011529384.1:c.2108G>C	XP_011527686.1:p.Arg703Pro
XM_011529385.1:c.2108G>C	XP_011527687.1:p.Arg703Pro
XR_937167.1:n.2263G>C
NM_001363745.1:c.2051G>C	NP_001350674.1:p.Arg684Pro
NR_135000.1:n.2263G>C
XM_005260856.5:c.2534G>C	XP_005260913.1:p.Arg845Pro
XM_011529383.3:c.2132G>C	XP_011527685.1:p.Arg711Pro
XM_017028093.1:c.2528G>C	XP_016883582.1:p.Arg843Pro
XM_017028094.1:c.2108G>C	XP_016883583.1:p.Arg703Pro
XM_017028096.1:c.2108G>C	XP_016883585.1:p.Arg703Pro
XR_001754419.1:n.2708G>C
XR_001754420.2:n.2688G>C
NM_001174089.2:c.2165G>C MANE Select	NP_001167560.1:p.Arg722Pro
NM_001363745.2:c.2051G>C	NP_001350674.1:p.Arg684Pro
NM_001174090.2:c.2294G>C	NP_001167561.1:p.Arg765Pro
NM_032034.4:c.2213G>C	NP_114423.1:p.Arg738Pro
NM_001400277.1:c.2108G>C	NP_001387206.1:p.Arg703Pro
NM_001400278.1:c.2108G>C	NP_001387207.1:p.Arg703Pro
NM_001400279.1:c.2108G>C	NP_001387208.1:p.Arg703Pro
NM_001400280.1:c.2180G>C	NP_001387209.1:p.Arg727Pro
NR_174470.1:n.2688G>C
NR_174471.1:n.2673G>C