Canonical Allele Identifier: CA9741567

Gene: SLC4A11

Linked Data

• dbSNP Id: rs778664349
• ExAC: 20:3209499 C / T
• gnomAD v2: 20-3209499-C-T
• gnomAD v4: 20-3228853-C-T
• MyVariant Identifiers: chr20:g.3209499C>T (hg19) ; chr20:g.3228853C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3228853C>T , CM000682.2:g.3228853C>T	GRCh38
NC_000020.10:g.3209499C>T , CM000682.1:g.3209499C>T	GRCh37
NC_000020.9:g.3157499C>T	NCBI36
NG_017072.1:g.15389G>A
NG_012093.2:g.24987C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000642402.1:c.2177G>A MANE Select	ENSP00000493503.1:p.Gly726Glu
ENST00000644011.1:c.2108G>A	ENSP00000496214.1:p.Gly703Glu
ENST00000644692.1:c.2048G>A	ENSP00000493824.1:p.Gly683Glu
ENST00000647296.1:c.2063G>A	ENSP00000495050.1:p.Gly688Glu
ENST00000380056.7:c.2225G>A	ENSP00000369396.3:p.Gly742Glu
ENST00000380059.7:c.2306G>A	ENSP00000369399.3:p.Gly769Glu
ENST00000474451.5:c.*325G>A	ENSP00000476859.1:n.*325G>A
ENST00000539553.6:c.2177G>A	ENSP00000441370.1:p.Gly726Glu
NM_001174089.1:c.2177G>A	NP_001167560.1:p.Gly726Glu
NM_001174090.1:c.2306G>A	NP_001167561.1:p.Gly769Glu
NM_032034.3:c.2225G>A	NP_114423.1:p.Gly742Glu
XM_005260856.3:c.2546G>A	XP_005260913.1:p.Gly849Glu
XM_005260857.1:c.2120G>A	XP_005260914.1:p.Gly707Glu
XM_011529383.1:c.2144G>A	XP_011527685.1:p.Gly715Glu
XM_011529384.1:c.2120G>A	XP_011527686.1:p.Gly707Glu
XM_011529385.1:c.2120G>A	XP_011527687.1:p.Gly707Glu
XR_937167.1:n.2275G>A
NM_001363745.1:c.2063G>A	NP_001350674.1:p.Gly688Glu
NR_135000.1:n.2275G>A
XM_005260856.5:c.2546G>A	XP_005260913.1:p.Gly849Glu
XM_011529383.3:c.2144G>A	XP_011527685.1:p.Gly715Glu
XM_017028093.1:c.2540G>A	XP_016883582.1:p.Gly847Glu
XM_017028094.1:c.2120G>A	XP_016883583.1:p.Gly707Glu
XM_017028096.1:c.2120G>A	XP_016883585.1:p.Gly707Glu
XR_001754419.1:n.2720G>A
XR_001754420.2:n.2700G>A
NM_001174089.2:c.2177G>A MANE Select	NP_001167560.1:p.Gly726Glu
NM_001363745.2:c.2063G>A	NP_001350674.1:p.Gly688Glu
NM_001174090.2:c.2306G>A	NP_001167561.1:p.Gly769Glu
NM_032034.4:c.2225G>A	NP_114423.1:p.Gly742Glu
NM_001400277.1:c.2120G>A	NP_001387206.1:p.Gly707Glu
NM_001400278.1:c.2120G>A	NP_001387207.1:p.Gly707Glu
NM_001400279.1:c.2120G>A	NP_001387208.1:p.Gly707Glu
NM_001400280.1:c.2192G>A	NP_001387209.1:p.Gly731Glu
NR_174470.1:n.2700G>A
NR_174471.1:n.2685G>A