Canonical Allele Identifier: CA408085026

Gene: SLC4A11

Linked Data

• MyVariant Identifiers: chr20:g.3208996G>T (hg19) ; chr20:g.3228350G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3228350G>T , CM000682.2:g.3228350G>T	GRCh38
NC_000020.10:g.3208996G>T , CM000682.1:g.3208996G>T	GRCh37
NC_000020.9:g.3156996G>T	NCBI36
NG_017072.1:g.15892C>A
NG_012093.2:g.24484G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000642402.1:c.2467C>A MANE Select	ENSP00000493503.1:p.Gln823Lys
ENST00000644011.1:c.2398C>A	ENSP00000496214.1:p.Gln800Lys
ENST00000644692.1:c.2266C>A	ENSP00000493824.1:p.Gln756Lys
ENST00000647296.1:c.2353C>A	ENSP00000495050.1:p.Gln785Lys
ENST00000380056.7:c.2515C>A	ENSP00000369396.3:p.Gln839Lys
ENST00000380059.7:c.2596C>A	ENSP00000369399.3:p.Gln866Lys
ENST00000474451.5:c.*615C>A	ENSP00000476859.1:n.*615C>A
ENST00000539553.6:c.2467C>A	ENSP00000441370.1:p.Gln823Lys
NM_001174089.1:c.2467C>A	NP_001167560.1:p.Gln823Lys
NM_001174090.1:c.2596C>A	NP_001167561.1:p.Gln866Lys
NM_032034.3:c.2515C>A	NP_114423.1:p.Gln839Lys
XM_005260856.3:c.2836C>A	XP_005260913.1:p.Gln946Lys
XM_005260857.1:c.2410C>A	XP_005260914.1:p.Gln804Lys
XM_011529383.1:c.2434C>A	XP_011527685.1:p.Gln812Lys
XM_011529384.1:c.2410C>A	XP_011527686.1:p.Gln804Lys
XM_011529385.1:c.2410C>A	XP_011527687.1:p.Gln804Lys
XR_937167.1:n.2565C>A
NM_001363745.1:c.2353C>A	NP_001350674.1:p.Gln785Lys
NR_135000.1:n.2565C>A
XM_005260856.5:c.2836C>A	XP_005260913.1:p.Gln946Lys
XM_011529383.3:c.2434C>A	XP_011527685.1:p.Gln812Lys
XM_017028093.1:c.2830C>A	XP_016883582.1:p.Gln944Lys
XM_017028094.1:c.2410C>A	XP_016883583.1:p.Gln804Lys
XM_017028096.1:c.2410C>A	XP_016883585.1:p.Gln804Lys
XR_001754419.1:n.3010C>A
XR_001754420.2:n.2990C>A
NM_001174089.2:c.2467C>A MANE Select	NP_001167560.1:p.Gln823Lys
NM_001363745.2:c.2353C>A	NP_001350674.1:p.Gln785Lys
NM_001174090.2:c.2596C>A	NP_001167561.1:p.Gln866Lys
NM_032034.4:c.2515C>A	NP_114423.1:p.Gln839Lys
NM_001400277.1:c.2410C>A	NP_001387206.1:p.Gln804Lys
NM_001400278.1:c.2410C>A	NP_001387207.1:p.Gln804Lys
NM_001400279.1:c.2410C>A	NP_001387208.1:p.Gln804Lys
NM_001400280.1:c.2482C>A	NP_001387209.1:p.Gln828Lys
NR_174470.1:n.2990C>A
NR_174471.1:n.2975C>A