Canonical Allele Identifier: CA408087002

Gene: SLC4A11

Linked Data

• MyVariant Identifiers: chr20:g.3209567A>T (hg19) ; chr20:g.3228921A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3228921A>T , CM000682.2:g.3228921A>T	GRCh38
NC_000020.10:g.3209567A>T , CM000682.1:g.3209567A>T	GRCh37
NC_000020.9:g.3157567A>T	NCBI36
NG_017072.1:g.15321T>A
NG_012093.2:g.25055A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000642402.1:c.2109T>A MANE Select	ENSP00000493503.1:p.His703Gln
ENST00000644011.1:c.2040T>A	ENSP00000496214.1:p.His680Gln
ENST00000644692.1:c.1980T>A	ENSP00000493824.1:p.His660Gln
ENST00000647296.1:c.1995T>A	ENSP00000495050.1:p.His665Gln
ENST00000380056.7:c.2157T>A	ENSP00000369396.3:p.His719Gln
ENST00000380059.7:c.2238T>A	ENSP00000369399.3:p.His746Gln
ENST00000474451.5:c.*257T>A	ENSP00000476859.1:n.*257T>A
ENST00000539553.6:c.2109T>A	ENSP00000441370.1:p.His703Gln
NM_001174089.1:c.2109T>A	NP_001167560.1:p.His703Gln
NM_001174090.1:c.2238T>A	NP_001167561.1:p.His746Gln
NM_032034.3:c.2157T>A	NP_114423.1:p.His719Gln
XM_005260856.3:c.2478T>A	XP_005260913.1:p.His826Gln
XM_005260857.1:c.2052T>A	XP_005260914.1:p.His684Gln
XM_011529383.1:c.2076T>A	XP_011527685.1:p.His692Gln
XM_011529384.1:c.2052T>A	XP_011527686.1:p.His684Gln
XM_011529385.1:c.2052T>A	XP_011527687.1:p.His684Gln
XR_937167.1:n.2207T>A
NM_001363745.1:c.1995T>A	NP_001350674.1:p.His665Gln
NR_135000.1:n.2207T>A
XM_005260856.5:c.2478T>A	XP_005260913.1:p.His826Gln
XM_011529383.3:c.2076T>A	XP_011527685.1:p.His692Gln
XM_017028093.1:c.2472T>A	XP_016883582.1:p.His824Gln
XM_017028094.1:c.2052T>A	XP_016883583.1:p.His684Gln
XM_017028096.1:c.2052T>A	XP_016883585.1:p.His684Gln
XR_001754419.1:n.2652T>A
XR_001754420.2:n.2632T>A
NM_001174089.2:c.2109T>A MANE Select	NP_001167560.1:p.His703Gln
NM_001363745.2:c.1995T>A	NP_001350674.1:p.His665Gln
NM_001174090.2:c.2238T>A	NP_001167561.1:p.His746Gln
NM_032034.4:c.2157T>A	NP_114423.1:p.His719Gln
NM_001400277.1:c.2052T>A	NP_001387206.1:p.His684Gln
NM_001400278.1:c.2052T>A	NP_001387207.1:p.His684Gln
NM_001400279.1:c.2052T>A	NP_001387208.1:p.His684Gln
NM_001400280.1:c.2124T>A	NP_001387209.1:p.His708Gln
NR_174470.1:n.2632T>A
NR_174471.1:n.2617T>A