Canonical Allele Identifier: CA509558152

Gene: SLC4A11

Linked Data

• ClinVar Variation Id: 3011425
• ClinVar RCV Id: RCV003870088
• dbSNP Id: rs1433084767
• gnomAD v3: 20-3228852-T-G
• gnomAD v4: 20-3228852-T-G
• MyVariant Identifiers: chr20:g.3209498T>G (hg19) ; chr20:g.3228852T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3228852T>G , CM000682.2:g.3228852T>G	GRCh38
NC_000020.10:g.3209498T>G , CM000682.1:g.3209498T>G	GRCh37
NC_000020.9:g.3157498T>G	NCBI36
NG_017072.1:g.15390A>C
NG_012093.2:g.24986T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000642402.1:c.2178A>C MANE Select	ENSP00000493503.1:p.Gly726=
ENST00000644011.1:c.2109A>C	ENSP00000496214.1:p.Gly703=
ENST00000644692.1:c.2049A>C	ENSP00000493824.1:p.Gly683=
ENST00000647296.1:c.2064A>C	ENSP00000495050.1:p.Gly688=
ENST00000380056.7:c.2226A>C	ENSP00000369396.3:p.Gly742=
ENST00000380059.7:c.2307A>C	ENSP00000369399.3:p.Gly769=
ENST00000474451.5:c.*326A>C	ENSP00000476859.1:n.*326A>C
ENST00000539553.6:c.2178A>C	ENSP00000441370.1:p.Gly726=
NM_001174089.1:c.2178A>C	NP_001167560.1:p.Gly726=
NM_001174090.1:c.2307A>C	NP_001167561.1:p.Gly769=
NM_032034.3:c.2226A>C	NP_114423.1:p.Gly742=
XM_005260856.3:c.2547A>C	XP_005260913.1:p.Gly849=
XM_005260857.1:c.2121A>C	XP_005260914.1:p.Gly707=
XM_011529383.1:c.2145A>C	XP_011527685.1:p.Gly715=
XM_011529384.1:c.2121A>C	XP_011527686.1:p.Gly707=
XM_011529385.1:c.2121A>C	XP_011527687.1:p.Gly707=
XR_937167.1:n.2276A>C
NM_001363745.1:c.2064A>C	NP_001350674.1:p.Gly688=
NR_135000.1:n.2276A>C
XM_005260856.5:c.2547A>C	XP_005260913.1:p.Gly849=
XM_011529383.3:c.2145A>C	XP_011527685.1:p.Gly715=
XM_017028093.1:c.2541A>C	XP_016883582.1:p.Gly847=
XM_017028094.1:c.2121A>C	XP_016883583.1:p.Gly707=
XM_017028096.1:c.2121A>C	XP_016883585.1:p.Gly707=
XR_001754419.1:n.2721A>C
XR_001754420.2:n.2701A>C
NM_001174089.2:c.2178A>C MANE Select	NP_001167560.1:p.Gly726=
NM_001363745.2:c.2064A>C	NP_001350674.1:p.Gly688=
NM_001174090.2:c.2307A>C	NP_001167561.1:p.Gly769=
NM_032034.4:c.2226A>C	NP_114423.1:p.Gly742=
NM_001400277.1:c.2121A>C	NP_001387206.1:p.Gly707=
NM_001400278.1:c.2121A>C	NP_001387207.1:p.Gly707=
NM_001400279.1:c.2121A>C	NP_001387208.1:p.Gly707=
NM_001400280.1:c.2193A>C	NP_001387209.1:p.Gly731=
NR_174470.1:n.2701A>C
NR_174471.1:n.2686A>C