Canonical Allele Identifier: CA10649519

Gene: SLC4A11

Linked Data

• ClinVar Variation Id: 338232
• ClinVar RCV Id: RCV000405940
• dbSNP Id: rs886056631
• MyVariant Identifiers: chr20:g.3208909T>C (hg19) ; chr20:g.3228263T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3228263T>C , CM000682.2:g.3228263T>C	GRCh38
NC_000020.10:g.3208909T>C , CM000682.1:g.3208909T>C	GRCh37
NC_000020.9:g.3156909T>C	NCBI36
NG_017072.1:g.15979A>G
NG_012093.2:g.24397T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000642402.1:c.2554A>G MANE Select	ENSP00000493503.1:p.Ile852Val
ENST00000644011.1:c.2485A>G	ENSP00000496214.1:p.Ile829Val
ENST00000644692.1:c.2353A>G	ENSP00000493824.1:p.Ile785Val
ENST00000647296.1:c.2440A>G	ENSP00000495050.1:p.Ile814Val
ENST00000380056.7:c.2602A>G	ENSP00000369396.3:p.Ile868Val
ENST00000380059.7:c.2683A>G	ENSP00000369399.3:p.Ile895Val
ENST00000474451.5:c.*702A>G	ENSP00000476859.1:n.*702A>G
ENST00000539553.6:c.2554A>G	ENSP00000441370.1:p.Ile852Val
NM_001174089.1:c.2554A>G	NP_001167560.1:p.Ile852Val
NM_001174090.1:c.2683A>G	NP_001167561.1:p.Ile895Val
NM_032034.3:c.2602A>G	NP_114423.1:p.Ile868Val
XM_005260856.3:c.2923A>G	XP_005260913.1:p.Ile975Val
XM_005260857.1:c.2497A>G	XP_005260914.1:p.Ile833Val
XM_011529383.1:c.2521A>G	XP_011527685.1:p.Ile841Val
XM_011529384.1:c.2497A>G	XP_011527686.1:p.Ile833Val
XM_011529385.1:c.2497A>G	XP_011527687.1:p.Ile833Val
XR_937167.1:n.2652A>G
NM_001363745.1:c.2440A>G	NP_001350674.1:p.Ile814Val
NR_135000.1:n.2652A>G
XM_005260856.5:c.2923A>G	XP_005260913.1:p.Ile975Val
XM_011529383.3:c.2521A>G	XP_011527685.1:p.Ile841Val
XM_017028093.1:c.2917A>G	XP_016883582.1:p.Ile973Val
XM_017028094.1:c.2497A>G	XP_016883583.1:p.Ile833Val
XM_017028096.1:c.2497A>G	XP_016883585.1:p.Ile833Val
XR_001754419.1:n.3097A>G
XR_001754420.2:n.3077A>G
NM_001174089.2:c.2554A>G MANE Select	NP_001167560.1:p.Ile852Val
NM_001363745.2:c.2440A>G	NP_001350674.1:p.Ile814Val
NM_001174090.2:c.2683A>G	NP_001167561.1:p.Ile895Val
NM_032034.4:c.2602A>G	NP_114423.1:p.Ile868Val
NM_001400277.1:c.2497A>G	NP_001387206.1:p.Ile833Val
NM_001400278.1:c.2497A>G	NP_001387207.1:p.Ile833Val
NM_001400279.1:c.2497A>G	NP_001387208.1:p.Ile833Val
NM_001400280.1:c.2569A>G	NP_001387209.1:p.Ile857Val
NR_174470.1:n.3077A>G
NR_174471.1:n.3062A>G