Canonical Allele Identifier: CA408085002

Gene: SLC4A11

Linked Data

• dbSNP Id: rs1469293734
• gnomAD v2: 20-3208992-A-G
• MyVariant Identifiers: chr20:g.3208992A>G (hg19) ; chr20:g.3228346A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3228346A>G , CM000682.2:g.3228346A>G	GRCh38
NC_000020.10:g.3208992A>G , CM000682.1:g.3208992A>G	GRCh37
NC_000020.9:g.3156992A>G	NCBI36
NG_017072.1:g.15896T>C
NG_012093.2:g.24480A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000642402.1:c.2471T>C MANE Select	ENSP00000493503.1:p.Leu824Pro
ENST00000644011.1:c.2402T>C	ENSP00000496214.1:p.Leu801Pro
ENST00000644692.1:c.2270T>C	ENSP00000493824.1:p.Leu757Pro
ENST00000647296.1:c.2357T>C	ENSP00000495050.1:p.Leu786Pro
ENST00000380056.7:c.2519T>C	ENSP00000369396.3:p.Leu840Pro
ENST00000380059.7:c.2600T>C	ENSP00000369399.3:p.Leu867Pro
ENST00000474451.5:c.*619T>C	ENSP00000476859.1:n.*619T>C
ENST00000539553.6:c.2471T>C	ENSP00000441370.1:p.Leu824Pro
NM_001174089.1:c.2471T>C	NP_001167560.1:p.Leu824Pro
NM_001174090.1:c.2600T>C	NP_001167561.1:p.Leu867Pro
NM_032034.3:c.2519T>C	NP_114423.1:p.Leu840Pro
XM_005260856.3:c.2840T>C	XP_005260913.1:p.Leu947Pro
XM_005260857.1:c.2414T>C	XP_005260914.1:p.Leu805Pro
XM_011529383.1:c.2438T>C	XP_011527685.1:p.Leu813Pro
XM_011529384.1:c.2414T>C	XP_011527686.1:p.Leu805Pro
XM_011529385.1:c.2414T>C	XP_011527687.1:p.Leu805Pro
XR_937167.1:n.2569T>C
NM_001363745.1:c.2357T>C	NP_001350674.1:p.Leu786Pro
NR_135000.1:n.2569T>C
XM_005260856.5:c.2840T>C	XP_005260913.1:p.Leu947Pro
XM_011529383.3:c.2438T>C	XP_011527685.1:p.Leu813Pro
XM_017028093.1:c.2834T>C	XP_016883582.1:p.Leu945Pro
XM_017028094.1:c.2414T>C	XP_016883583.1:p.Leu805Pro
XM_017028096.1:c.2414T>C	XP_016883585.1:p.Leu805Pro
XR_001754419.1:n.3014T>C
XR_001754420.2:n.2994T>C
NM_001174089.2:c.2471T>C MANE Select	NP_001167560.1:p.Leu824Pro
NM_001363745.2:c.2357T>C	NP_001350674.1:p.Leu786Pro
NM_001174090.2:c.2600T>C	NP_001167561.1:p.Leu867Pro
NM_032034.4:c.2519T>C	NP_114423.1:p.Leu840Pro
NM_001400277.1:c.2414T>C	NP_001387206.1:p.Leu805Pro
NM_001400278.1:c.2414T>C	NP_001387207.1:p.Leu805Pro
NM_001400279.1:c.2414T>C	NP_001387208.1:p.Leu805Pro
NM_001400280.1:c.2486T>C	NP_001387209.1:p.Leu829Pro
NR_174470.1:n.2994T>C
NR_174471.1:n.2979T>C