Canonical Allele Identifier: CA2346477929

Gene: SLC4A11

Linked Data

• dbSNP Id: rs2067879241
• gnomAD v4: 20-3234077-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3234077C>T , CM000682.2:g.3234077C>T	GRCh38
NC_000020.10:g.3214723C>T , CM000682.1:g.3214723C>T	GRCh37
NC_000020.9:g.3162723C>T	NCBI36
NG_017072.1:g.10165G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000642402.1:c.523+6G>A MANE Select	ENSP00000493503.1:n.523+6G>A
ENST00000644011.1:c.454+6G>A	ENSP00000496214.1:n.454+6G>A
ENST00000644692.1:c.466+6G>A	ENSP00000493824.1:n.466+6G>A
ENST00000647296.1:c.523+6G>A	ENSP00000495050.1:n.523+6G>A
ENST00000380056.7:c.571+6G>A	ENSP00000369396.3:n.571+6G>A
ENST00000380059.7:c.652+6G>A	ENSP00000369399.3:n.652+6G>A
ENST00000474451.5:c.466+6G>A	ENSP00000476859.1:n.466+6G>A
ENST00000539553.6:c.523+6G>A	ENSP00000441370.1:n.523+6G>A
NM_001174089.1:c.523+6G>A	NP_001167560.1:n.523+6G>A
NM_001174090.1:c.652+6G>A	NP_001167561.1:n.652+6G>A
NM_032034.3:c.571+6G>A	NP_114423.1:n.571+6G>A
XM_005260856.3:c.1006+6G>A	XP_005260913.1:n.1006+6G>A
XM_005260857.1:c.466+6G>A	XP_005260914.1:n.466+6G>A
XM_011529383.1:c.490+6G>A	XP_011527685.1:n.490+6G>A
XM_011529384.1:c.466+6G>A	XP_011527686.1:n.466+6G>A
XM_011529385.1:c.466+6G>A	XP_011527687.1:n.466+6G>A
XM_011529386.1:c.1006+6G>A	XP_011527688.1:n.1006+6G>A
XR_937167.1:n.691+6G>A
NM_001363745.1:c.523+6G>A	NP_001350674.1:n.523+6G>A
NR_135000.1:n.691+6G>A
XM_005260856.5:c.1006+6G>A	XP_005260913.1:n.1006+6G>A
XM_011529383.3:c.490+6G>A	XP_011527685.1:n.490+6G>A
XM_017028093.1:c.1006+6G>A	XP_016883582.1:n.1006+6G>A
XM_017028094.1:c.466+6G>A	XP_016883583.1:n.466+6G>A
XM_017028096.1:c.466+6G>A	XP_016883585.1:n.466+6G>A
XM_017028097.1:c.1006+6G>A	XP_016883586.1:n.1006+6G>A
XR_001754419.1:n.1116+6G>A
XR_001754420.2:n.1116+6G>A
NM_001174089.2:c.523+6G>A MANE Select	NP_001167560.1:n.523+6G>A
NM_001363745.2:c.523+6G>A	NP_001350674.1:n.523+6G>A
NM_001174090.2:c.652+6G>A	NP_001167561.1:n.652+6G>A
NM_032034.4:c.571+6G>A	NP_114423.1:n.571+6G>A
NM_001400277.1:c.466+6G>A	NP_001387206.1:n.466+6G>A
NM_001400278.1:c.466+6G>A	NP_001387207.1:n.466+6G>A
NM_001400279.1:c.466+6G>A	NP_001387208.1:n.466+6G>A
NM_001400280.1:c.652+6G>A	NP_001387209.1:n.652+6G>A
NR_174470.1:n.1081+6G>A
NR_174471.1:n.1081+6G>A