Canonical Allele Identifier: CA509557607

Gene: SLC4A11

Linked Data

• ClinVar Variation Id: 2979895
• ClinVar RCV Id: RCV003835005
• MyVariant Identifiers: chr20:g.3208910G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3228264G>A , CM000682.2:g.3228264G>A	GRCh38
NC_000020.10:g.3208910G>A , CM000682.1:g.3208910G>A	GRCh37
NC_000020.9:g.3156910G>A	NCBI36
NG_017072.1:g.15978C>T
NG_012093.2:g.24398G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000642402.1:c.2553C>T MANE Select	ENSP00000493503.1:p.Pro851=
ENST00000644011.1:c.2484C>T	ENSP00000496214.1:p.Pro828=
ENST00000644692.1:c.2352C>T	ENSP00000493824.1:p.Pro784=
ENST00000647296.1:c.2439C>T	ENSP00000495050.1:p.Pro813=
ENST00000380056.7:c.2601C>T	ENSP00000369396.3:p.Pro867=
ENST00000380059.7:c.2682C>T	ENSP00000369399.3:p.Pro894=
ENST00000474451.5:c.*701C>T	ENSP00000476859.1:n.*701C>T
ENST00000539553.6:c.2553C>T	ENSP00000441370.1:p.Pro851=
NM_001174089.1:c.2553C>T	NP_001167560.1:p.Pro851=
NM_001174090.1:c.2682C>T	NP_001167561.1:p.Pro894=
NM_032034.3:c.2601C>T	NP_114423.1:p.Pro867=
XM_005260856.3:c.2922C>T	XP_005260913.1:p.Pro974=
XM_005260857.1:c.2496C>T	XP_005260914.1:p.Pro832=
XM_011529383.1:c.2520C>T	XP_011527685.1:p.Pro840=
XM_011529384.1:c.2496C>T	XP_011527686.1:p.Pro832=
XM_011529385.1:c.2496C>T	XP_011527687.1:p.Pro832=
XR_937167.1:n.2651C>T
NM_001363745.1:c.2439C>T	NP_001350674.1:p.Pro813=
NR_135000.1:n.2651C>T
XM_005260856.5:c.2922C>T	XP_005260913.1:p.Pro974=
XM_011529383.3:c.2520C>T	XP_011527685.1:p.Pro840=
XM_017028093.1:c.2916C>T	XP_016883582.1:p.Pro972=
XM_017028094.1:c.2496C>T	XP_016883583.1:p.Pro832=
XM_017028096.1:c.2496C>T	XP_016883585.1:p.Pro832=
XR_001754419.1:n.3096C>T
XR_001754420.2:n.3076C>T
NM_001174089.2:c.2553C>T MANE Select	NP_001167560.1:p.Pro851=
NM_001363745.2:c.2439C>T	NP_001350674.1:p.Pro813=
NM_001174090.2:c.2682C>T	NP_001167561.1:p.Pro894=
NM_032034.4:c.2601C>T	NP_114423.1:p.Pro867=
NM_001400277.1:c.2496C>T	NP_001387206.1:p.Pro832=
NM_001400278.1:c.2496C>T	NP_001387207.1:p.Pro832=
NM_001400279.1:c.2496C>T	NP_001387208.1:p.Pro832=
NM_001400280.1:c.2568C>T	NP_001387209.1:p.Pro856=
NR_174470.1:n.3076C>T
NR_174471.1:n.3061C>T