Canonical Allele Identifier: CA310985932

Gene: SLC4A11

Linked Data

• dbSNP Id: rs868360428
• COSMIC: COSM724021 ; COSM724022
• MyVariant Identifiers: chr20:g.3209565G>A (hg19) ; chr20:g.3228919G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3228919G>A , CM000682.2:g.3228919G>A	GRCh38
NC_000020.10:g.3209565G>A , CM000682.1:g.3209565G>A	GRCh37
NC_000020.9:g.3157565G>A	NCBI36
NG_017072.1:g.15323C>T
NG_012093.2:g.25053G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000642402.1:c.2111C>T MANE Select	ENSP00000493503.1:p.Ala704Val
ENST00000644011.1:c.2042C>T	ENSP00000496214.1:p.Ala681Val
ENST00000644692.1:c.1982C>T	ENSP00000493824.1:p.Ala661Val
ENST00000647296.1:c.1997C>T	ENSP00000495050.1:p.Ala666Val
ENST00000380056.7:c.2159C>T	ENSP00000369396.3:p.Ala720Val
ENST00000380059.7:c.2240C>T	ENSP00000369399.3:p.Ala747Val
ENST00000474451.5:c.*259C>T	ENSP00000476859.1:n.*259C>T
ENST00000539553.6:c.2111C>T	ENSP00000441370.1:p.Ala704Val
NM_001174089.1:c.2111C>T	NP_001167560.1:p.Ala704Val
NM_001174090.1:c.2240C>T	NP_001167561.1:p.Ala747Val
NM_032034.3:c.2159C>T	NP_114423.1:p.Ala720Val
XM_005260856.3:c.2480C>T	XP_005260913.1:p.Ala827Val
XM_005260857.1:c.2054C>T	XP_005260914.1:p.Ala685Val
XM_011529383.1:c.2078C>T	XP_011527685.1:p.Ala693Val
XM_011529384.1:c.2054C>T	XP_011527686.1:p.Ala685Val
XM_011529385.1:c.2054C>T	XP_011527687.1:p.Ala685Val
XR_937167.1:n.2209C>T
NM_001363745.1:c.1997C>T	NP_001350674.1:p.Ala666Val
NR_135000.1:n.2209C>T
XM_005260856.5:c.2480C>T	XP_005260913.1:p.Ala827Val
XM_011529383.3:c.2078C>T	XP_011527685.1:p.Ala693Val
XM_017028093.1:c.2474C>T	XP_016883582.1:p.Ala825Val
XM_017028094.1:c.2054C>T	XP_016883583.1:p.Ala685Val
XM_017028096.1:c.2054C>T	XP_016883585.1:p.Ala685Val
XR_001754419.1:n.2654C>T
XR_001754420.2:n.2634C>T
NM_001174089.2:c.2111C>T MANE Select	NP_001167560.1:p.Ala704Val
NM_001363745.2:c.1997C>T	NP_001350674.1:p.Ala666Val
NM_001174090.2:c.2240C>T	NP_001167561.1:p.Ala747Val
NM_032034.4:c.2159C>T	NP_114423.1:p.Ala720Val
NM_001400277.1:c.2054C>T	NP_001387206.1:p.Ala685Val
NM_001400278.1:c.2054C>T	NP_001387207.1:p.Ala685Val
NM_001400279.1:c.2054C>T	NP_001387208.1:p.Ala685Val
NM_001400280.1:c.2126C>T	NP_001387209.1:p.Ala709Val
NR_174470.1:n.2634C>T
NR_174471.1:n.2619C>T