Canonical Allele Identifier: CA2589595561

Gene: SLC4A11

Linked Data

• dbSNP Id: rs2122492652
• gnomAD v3: 20-3228051-C-A
• gnomAD v4: 20-3228051-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3228051C>A , CM000682.2:g.3228051C>A	GRCh38
NC_000020.10:g.3208697C>A , CM000682.1:g.3208697C>A	GRCh37
NC_000020.9:g.3156697C>A	NCBI36
NG_017072.1:g.16191G>T
NG_012093.2:g.24185C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642402.1:c.2559-195G>T MANE Select	ENSP00000493503.1:n.2559-195G>T
ENST00000644011.1:c.2490-195G>T	ENSP00000496214.1:n.2490-195G>T
ENST00000644692.1:c.2358-195G>T	ENSP00000493824.1:n.2358-195G>T
ENST00000647296.1:c.2445-195G>T	ENSP00000495050.1:n.2445-195G>T
ENST00000380056.7:c.2607-195G>T	ENSP00000369396.3:n.2607-195G>T
ENST00000380059.7:c.2688-195G>T	ENSP00000369399.3:n.2688-195G>T
ENST00000474451.5:c.*707-195G>T	ENSP00000476859.1:n.*707-195G>T
ENST00000539553.6:c.2559-195G>T	ENSP00000441370.1:n.2559-195G>T
NM_001174089.1:c.2559-195G>T	NP_001167560.1:n.2559-195G>T
NM_001174090.1:c.2688-195G>T	NP_001167561.1:n.2688-195G>T
NM_032034.3:c.2607-195G>T	NP_114423.1:n.2607-195G>T
XM_005260856.3:c.2928-195G>T	XP_005260913.1:n.2928-195G>T
XM_005260857.1:c.2502-195G>T	XP_005260914.1:n.2502-195G>T
XM_011529383.1:c.2526-195G>T	XP_011527685.1:n.2526-195G>T
XM_011529384.1:c.2502-195G>T	XP_011527686.1:n.2502-195G>T
XM_011529385.1:c.2502-195G>T	XP_011527687.1:n.2502-195G>T
XR_937167.1:n.2657-195G>T
NM_001363745.1:c.2445-195G>T	NP_001350674.1:n.2445-195G>T
NR_135000.1:n.2657-195G>T
XM_005260856.5:c.2928-195G>T	XP_005260913.1:n.2928-195G>T
XM_011529383.3:c.2526-195G>T	XP_011527685.1:n.2526-195G>T
XM_017028093.1:c.2922-195G>T	XP_016883582.1:n.2922-195G>T
XM_017028094.1:c.2502-195G>T	XP_016883583.1:n.2502-195G>T
XM_017028096.1:c.2502-195G>T	XP_016883585.1:n.2502-195G>T
XR_001754419.1:n.3102-195G>T
XR_001754420.2:n.3082-195G>T
NM_001174089.2:c.2559-195G>T MANE Select	NP_001167560.1:n.2559-195G>T
NM_001363745.2:c.2445-195G>T	NP_001350674.1:n.2445-195G>T
NM_001174090.2:c.2688-195G>T	NP_001167561.1:n.2688-195G>T
NM_032034.4:c.2607-195G>T	NP_114423.1:n.2607-195G>T
NM_001400277.1:c.2502-195G>T	NP_001387206.1:n.2502-195G>T
NM_001400278.1:c.2502-195G>T	NP_001387207.1:n.2502-195G>T
NM_001400279.1:c.2502-195G>T	NP_001387208.1:n.2502-195G>T
NM_001400280.1:c.2574-195G>T	NP_001387209.1:n.2574-195G>T
NR_174470.1:n.3082-195G>T
NR_174471.1:n.3067-195G>T