Canonical Allele Identifier: CA9741436

Gene: SLC4A11

Linked Data

• ClinVar Variation Id: 2854060
• ClinVar RCV Id: RCV003688468
• dbSNP Id: rs750109559
• ExAC: 20:3208907 G / T
• gnomAD v2: 20-3208907-G-T
• gnomAD v4: 20-3228261-G-T
• MyVariant Identifiers: chr20:g.3208907G>T (hg19) ; chr20:g.3228261G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3228261G>T , CM000682.2:g.3228261G>T	GRCh38
NC_000020.10:g.3208907G>T , CM000682.1:g.3208907G>T	GRCh37
NC_000020.9:g.3156907G>T	NCBI36
NG_017072.1:g.15981C>A
NG_012093.2:g.24395G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000642402.1:c.2556C>A MANE Select	ENSP00000493503.1:p.Ile852=
ENST00000644011.1:c.2487C>A	ENSP00000496214.1:p.Ile829=
ENST00000644692.1:c.2355C>A	ENSP00000493824.1:p.Ile785=
ENST00000647296.1:c.2442C>A	ENSP00000495050.1:p.Ile814=
ENST00000380056.7:c.2604C>A	ENSP00000369396.3:p.Ile868=
ENST00000380059.7:c.2685C>A	ENSP00000369399.3:p.Ile895=
ENST00000474451.5:c.*704C>A	ENSP00000476859.1:n.*704C>A
ENST00000539553.6:c.2556C>A	ENSP00000441370.1:p.Ile852=
NM_001174089.1:c.2556C>A	NP_001167560.1:p.Ile852=
NM_001174090.1:c.2685C>A	NP_001167561.1:p.Ile895=
NM_032034.3:c.2604C>A	NP_114423.1:p.Ile868=
XM_005260856.3:c.2925C>A	XP_005260913.1:p.Ile975=
XM_005260857.1:c.2499C>A	XP_005260914.1:p.Ile833=
XM_011529383.1:c.2523C>A	XP_011527685.1:p.Ile841=
XM_011529384.1:c.2499C>A	XP_011527686.1:p.Ile833=
XM_011529385.1:c.2499C>A	XP_011527687.1:p.Ile833=
XR_937167.1:n.2654C>A
NM_001363745.1:c.2442C>A	NP_001350674.1:p.Ile814=
NR_135000.1:n.2654C>A
XM_005260856.5:c.2925C>A	XP_005260913.1:p.Ile975=
XM_011529383.3:c.2523C>A	XP_011527685.1:p.Ile841=
XM_017028093.1:c.2919C>A	XP_016883582.1:p.Ile973=
XM_017028094.1:c.2499C>A	XP_016883583.1:p.Ile833=
XM_017028096.1:c.2499C>A	XP_016883585.1:p.Ile833=
XR_001754419.1:n.3099C>A
XR_001754420.2:n.3079C>A
NM_001174089.2:c.2556C>A MANE Select	NP_001167560.1:p.Ile852=
NM_001363745.2:c.2442C>A	NP_001350674.1:p.Ile814=
NM_001174090.2:c.2685C>A	NP_001167561.1:p.Ile895=
NM_032034.4:c.2604C>A	NP_114423.1:p.Ile868=
NM_001400277.1:c.2499C>A	NP_001387206.1:p.Ile833=
NM_001400278.1:c.2499C>A	NP_001387207.1:p.Ile833=
NM_001400279.1:c.2499C>A	NP_001387208.1:p.Ile833=
NM_001400280.1:c.2571C>A	NP_001387209.1:p.Ile857=
NR_174470.1:n.3079C>A
NR_174471.1:n.3064C>A