Canonical Allele Identifier: CA408084996

Gene: SLC4A11

Linked Data

• MyVariant Identifiers: chr20:g.3208990G>C (hg19) ; chr20:g.3228344G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3228344G>C , CM000682.2:g.3228344G>C	GRCh38
NC_000020.10:g.3208990G>C , CM000682.1:g.3208990G>C	GRCh37
NC_000020.9:g.3156990G>C	NCBI36
NG_017072.1:g.15898C>G
NG_012093.2:g.24478G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000642402.1:c.2473C>G MANE Select	ENSP00000493503.1:p.Leu825Val
ENST00000644011.1:c.2404C>G	ENSP00000496214.1:p.Leu802Val
ENST00000644692.1:c.2272C>G	ENSP00000493824.1:p.Leu758Val
ENST00000647296.1:c.2359C>G	ENSP00000495050.1:p.Leu787Val
ENST00000380056.7:c.2521C>G	ENSP00000369396.3:p.Leu841Val
ENST00000380059.7:c.2602C>G	ENSP00000369399.3:p.Leu868Val
ENST00000474451.5:c.*621C>G	ENSP00000476859.1:n.*621C>G
ENST00000539553.6:c.2473C>G	ENSP00000441370.1:p.Leu825Val
NM_001174089.1:c.2473C>G	NP_001167560.1:p.Leu825Val
NM_001174090.1:c.2602C>G	NP_001167561.1:p.Leu868Val
NM_032034.3:c.2521C>G	NP_114423.1:p.Leu841Val
XM_005260856.3:c.2842C>G	XP_005260913.1:p.Leu948Val
XM_005260857.1:c.2416C>G	XP_005260914.1:p.Leu806Val
XM_011529383.1:c.2440C>G	XP_011527685.1:p.Leu814Val
XM_011529384.1:c.2416C>G	XP_011527686.1:p.Leu806Val
XM_011529385.1:c.2416C>G	XP_011527687.1:p.Leu806Val
XR_937167.1:n.2571C>G
NM_001363745.1:c.2359C>G	NP_001350674.1:p.Leu787Val
NR_135000.1:n.2571C>G
XM_005260856.5:c.2842C>G	XP_005260913.1:p.Leu948Val
XM_011529383.3:c.2440C>G	XP_011527685.1:p.Leu814Val
XM_017028093.1:c.2836C>G	XP_016883582.1:p.Leu946Val
XM_017028094.1:c.2416C>G	XP_016883583.1:p.Leu806Val
XM_017028096.1:c.2416C>G	XP_016883585.1:p.Leu806Val
XR_001754419.1:n.3016C>G
XR_001754420.2:n.2996C>G
NM_001174089.2:c.2473C>G MANE Select	NP_001167560.1:p.Leu825Val
NM_001363745.2:c.2359C>G	NP_001350674.1:p.Leu787Val
NM_001174090.2:c.2602C>G	NP_001167561.1:p.Leu868Val
NM_032034.4:c.2521C>G	NP_114423.1:p.Leu841Val
NM_001400277.1:c.2416C>G	NP_001387206.1:p.Leu806Val
NM_001400278.1:c.2416C>G	NP_001387207.1:p.Leu806Val
NM_001400279.1:c.2416C>G	NP_001387208.1:p.Leu806Val
NM_001400280.1:c.2488C>G	NP_001387209.1:p.Leu830Val
NR_174470.1:n.2996C>G
NR_174471.1:n.2981C>G