Canonical Allele Identifier: CA9741593

Gene: SLC4A11

Linked Data

• dbSNP Id: rs149918522
• ExAC: 20:3209574 C / T
• gnomAD v2: 20-3209574-C-T
• gnomAD v3: 20-3228928-C-T
• gnomAD v4: 20-3228928-C-T
• MyVariant Identifiers: chr20:g.3209574C>T (hg19) ; chr20:g.3228928C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3228928C>T , CM000682.2:g.3228928C>T	GRCh38
NC_000020.10:g.3209574C>T , CM000682.1:g.3209574C>T	GRCh37
NC_000020.9:g.3157574C>T	NCBI36
NG_017072.1:g.15314G>A
NG_012093.2:g.25062C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000642402.1:c.2102G>A MANE Select	ENSP00000493503.1:p.Trp701Ter
ENST00000644011.1:c.2033G>A	ENSP00000496214.1:p.Trp678Ter
ENST00000644692.1:c.1973G>A	ENSP00000493824.1:p.Trp658Ter
ENST00000647296.1:c.1988G>A	ENSP00000495050.1:p.Trp663Ter
ENST00000380056.7:c.2150G>A	ENSP00000369396.3:p.Trp717Ter
ENST00000380059.7:c.2231G>A	ENSP00000369399.3:p.Trp744Ter
ENST00000474451.5:c.*250G>A	ENSP00000476859.1:n.*250G>A
ENST00000488544.1:n.695G>A
ENST00000539553.6:c.2102G>A	ENSP00000441370.1:p.Trp701Ter
NM_001174089.1:c.2102G>A	NP_001167560.1:p.Trp701Ter
NM_001174090.1:c.2231G>A	NP_001167561.1:p.Trp744Ter
NM_032034.3:c.2150G>A	NP_114423.1:p.Trp717Ter
XM_005260856.3:c.2471G>A	XP_005260913.1:p.Trp824Ter
XM_005260857.1:c.2045G>A	XP_005260914.1:p.Trp682Ter
XM_011529383.1:c.2069G>A	XP_011527685.1:p.Trp690Ter
XM_011529384.1:c.2045G>A	XP_011527686.1:p.Trp682Ter
XM_011529385.1:c.2045G>A	XP_011527687.1:p.Trp682Ter
XR_937167.1:n.2200G>A
NM_001363745.1:c.1988G>A	NP_001350674.1:p.Trp663Ter
NR_135000.1:n.2200G>A
XM_005260856.5:c.2471G>A	XP_005260913.1:p.Trp824Ter
XM_011529383.3:c.2069G>A	XP_011527685.1:p.Trp690Ter
XM_017028093.1:c.2465G>A	XP_016883582.1:p.Trp822Ter
XM_017028094.1:c.2045G>A	XP_016883583.1:p.Trp682Ter
XM_017028096.1:c.2045G>A	XP_016883585.1:p.Trp682Ter
XR_001754419.1:n.2645G>A
XR_001754420.2:n.2625G>A
NM_001174089.2:c.2102G>A MANE Select	NP_001167560.1:p.Trp701Ter
NM_001363745.2:c.1988G>A	NP_001350674.1:p.Trp663Ter
NM_001174090.2:c.2231G>A	NP_001167561.1:p.Trp744Ter
NM_032034.4:c.2150G>A	NP_114423.1:p.Trp717Ter
NM_001400277.1:c.2045G>A	NP_001387206.1:p.Trp682Ter
NM_001400278.1:c.2045G>A	NP_001387207.1:p.Trp682Ter
NM_001400279.1:c.2045G>A	NP_001387208.1:p.Trp682Ter
NM_001400280.1:c.2117G>A	NP_001387209.1:p.Trp706Ter
NR_174470.1:n.2625G>A
NR_174471.1:n.2610G>A