Canonical Allele Identifier: CA408084602

Gene: SLC4A11

Linked Data

• MyVariant Identifiers: chr20:g.3208915T>A (hg19) ; chr20:g.3228269T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3228269T>A , CM000682.2:g.3228269T>A	GRCh38
NC_000020.10:g.3208915T>A , CM000682.1:g.3208915T>A	GRCh37
NC_000020.9:g.3156915T>A	NCBI36
NG_017072.1:g.15973A>T
NG_012093.2:g.24403T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000642402.1:c.2548A>T MANE Select	ENSP00000493503.1:p.Ile850Phe
ENST00000644011.1:c.2479A>T	ENSP00000496214.1:p.Ile827Phe
ENST00000644692.1:c.2347A>T	ENSP00000493824.1:p.Ile783Phe
ENST00000647296.1:c.2434A>T	ENSP00000495050.1:p.Ile812Phe
ENST00000380056.7:c.2596A>T	ENSP00000369396.3:p.Ile866Phe
ENST00000380059.7:c.2677A>T	ENSP00000369399.3:p.Ile893Phe
ENST00000474451.5:c.*696A>T	ENSP00000476859.1:n.*696A>T
ENST00000539553.6:c.2548A>T	ENSP00000441370.1:p.Ile850Phe
NM_001174089.1:c.2548A>T	NP_001167560.1:p.Ile850Phe
NM_001174090.1:c.2677A>T	NP_001167561.1:p.Ile893Phe
NM_032034.3:c.2596A>T	NP_114423.1:p.Ile866Phe
XM_005260856.3:c.2917A>T	XP_005260913.1:p.Ile973Phe
XM_005260857.1:c.2491A>T	XP_005260914.1:p.Ile831Phe
XM_011529383.1:c.2515A>T	XP_011527685.1:p.Ile839Phe
XM_011529384.1:c.2491A>T	XP_011527686.1:p.Ile831Phe
XM_011529385.1:c.2491A>T	XP_011527687.1:p.Ile831Phe
XR_937167.1:n.2646A>T
NM_001363745.1:c.2434A>T	NP_001350674.1:p.Ile812Phe
NR_135000.1:n.2646A>T
XM_005260856.5:c.2917A>T	XP_005260913.1:p.Ile973Phe
XM_011529383.3:c.2515A>T	XP_011527685.1:p.Ile839Phe
XM_017028093.1:c.2911A>T	XP_016883582.1:p.Ile971Phe
XM_017028094.1:c.2491A>T	XP_016883583.1:p.Ile831Phe
XM_017028096.1:c.2491A>T	XP_016883585.1:p.Ile831Phe
XR_001754419.1:n.3091A>T
XR_001754420.2:n.3071A>T
NM_001174089.2:c.2548A>T MANE Select	NP_001167560.1:p.Ile850Phe
NM_001363745.2:c.2434A>T	NP_001350674.1:p.Ile812Phe
NM_001174090.2:c.2677A>T	NP_001167561.1:p.Ile893Phe
NM_032034.4:c.2596A>T	NP_114423.1:p.Ile866Phe
NM_001400277.1:c.2491A>T	NP_001387206.1:p.Ile831Phe
NM_001400278.1:c.2491A>T	NP_001387207.1:p.Ile831Phe
NM_001400279.1:c.2491A>T	NP_001387208.1:p.Ile831Phe
NM_001400280.1:c.2563A>T	NP_001387209.1:p.Ile855Phe
NR_174470.1:n.3071A>T
NR_174471.1:n.3056A>T