Canonical Allele Identifier: CA250435

Gene: SLC4A11

Linked Data

• ClinVar Variation Id: 1305
• ClinVar RCV Id: RCV000001368 ; RCV001851538
• dbSNP Id: rs121909388
• ExAC: 20:3210904 G / A
• gnomAD v2: 20-3210904-G-A
• gnomAD v3: 20-3230258-G-A
• gnomAD v4: 20-3230258-G-A
• MyVariant Identifiers: chr20:g.3210904G>A (hg19) ; chr20:g.3230258G>A (hg38)
• PubMed: PMID:18024964

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3230258G>A , CM000682.2:g.3230258G>A	GRCh38
NC_000020.10:g.3210904G>A , CM000682.1:g.3210904G>A	GRCh37
NC_000020.9:g.3158904G>A	NCBI36
NG_017072.1:g.13984C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000642402.1:c.1418C>T MANE Select	ENSP00000493503.1:p.Ser473Leu
ENST00000644011.1:c.1349C>T	ENSP00000496214.1:p.Ser450Leu
ENST00000644692.1:c.1289C>T	ENSP00000493824.1:p.Ser430Leu
ENST00000647296.1:c.1304C>T	ENSP00000495050.1:p.Ser435Leu
ENST00000380056.7:c.1466C>T	ENSP00000369396.3:p.Ser489Leu
ENST00000380059.7:c.1547C>T	ENSP00000369399.3:p.Ser516Leu
ENST00000470631.1:n.303C>T
ENST00000474451.5:c.1361C>T	ENSP00000476859.1:p.Ser454Leu
ENST00000539553.6:c.1418C>T	ENSP00000441370.1:p.Ser473Leu
NM_001174089.1:c.1418C>T	NP_001167560.1:p.Ser473Leu
NM_001174090.1:c.1547C>T	NP_001167561.1:p.Ser516Leu
NM_032034.3:c.1466C>T	NP_114423.1:p.Ser489Leu
XM_005260856.3:c.1787C>T	XP_005260913.1:p.Ser596Leu
XM_005260857.1:c.1361C>T	XP_005260914.1:p.Ser454Leu
XM_011529383.1:c.1385C>T	XP_011527685.1:p.Ser462Leu
XM_011529384.1:c.1361C>T	XP_011527686.1:p.Ser454Leu
XM_011529385.1:c.1361C>T	XP_011527687.1:p.Ser454Leu
XM_011529386.1:c.1901C>T	XP_011527688.1:p.Ser634Leu
XR_937167.1:n.1586C>T
NM_001363745.1:c.1304C>T	NP_001350674.1:p.Ser435Leu
NR_135000.1:n.1586C>T
XM_005260856.5:c.1787C>T	XP_005260913.1:p.Ser596Leu
XM_011529383.3:c.1385C>T	XP_011527685.1:p.Ser462Leu
XM_017028093.1:c.1901C>T	XP_016883582.1:p.Ser634Leu
XM_017028094.1:c.1361C>T	XP_016883583.1:p.Ser454Leu
XM_017028096.1:c.1361C>T	XP_016883585.1:p.Ser454Leu
XR_001754419.1:n.2011C>T
XR_001754420.2:n.2011C>T
NM_001174089.2:c.1418C>T MANE Select	NP_001167560.1:p.Ser473Leu
NM_001363745.2:c.1304C>T	NP_001350674.1:p.Ser435Leu
NM_001174090.2:c.1547C>T	NP_001167561.1:p.Ser516Leu
NM_032034.4:c.1466C>T	NP_114423.1:p.Ser489Leu
NM_001400277.1:c.1361C>T	NP_001387206.1:p.Ser454Leu
NM_001400278.1:c.1361C>T	NP_001387207.1:p.Ser454Leu
NM_001400279.1:c.1361C>T	NP_001387208.1:p.Ser454Leu
NM_001400280.1:c.1433C>T	NP_001387209.1:p.Ser478Leu
NR_174470.1:n.1991C>T
NR_174471.1:n.1976C>T