Canonical Allele Identifier: CA9742264

Gene: SLC4A11

Linked Data

• dbSNP Id: rs376957191
• ExAC: 20:3214721 G / C
• gnomAD v2: 20-3214721-G-C
• gnomAD v4: 20-3234075-G-C
• MyVariant Identifiers: chr20:g.3214721G>C (hg19) ; chr20:g.3234075G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3234075G>C , CM000682.2:g.3234075G>C	GRCh38
NC_000020.10:g.3214721G>C , CM000682.1:g.3214721G>C	GRCh37
NC_000020.9:g.3162721G>C	NCBI36
NG_017072.1:g.10167C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000642402.1:c.523+8C>G MANE Select	ENSP00000493503.1:n.523+8C>G
ENST00000644011.1:c.454+8C>G	ENSP00000496214.1:n.454+8C>G
ENST00000644692.1:c.466+8C>G	ENSP00000493824.1:n.466+8C>G
ENST00000647296.1:c.523+8C>G	ENSP00000495050.1:n.523+8C>G
ENST00000380056.7:c.571+8C>G	ENSP00000369396.3:n.571+8C>G
ENST00000380059.7:c.652+8C>G	ENSP00000369399.3:n.652+8C>G
ENST00000474451.5:c.466+8C>G	ENSP00000476859.1:n.466+8C>G
ENST00000539553.6:c.523+8C>G	ENSP00000441370.1:n.523+8C>G
NM_001174089.1:c.523+8C>G	NP_001167560.1:n.523+8C>G
NM_001174090.1:c.652+8C>G	NP_001167561.1:n.652+8C>G
NM_032034.3:c.571+8C>G	NP_114423.1:n.571+8C>G
XM_005260856.3:c.1006+8C>G	XP_005260913.1:n.1006+8C>G
XM_005260857.1:c.466+8C>G	XP_005260914.1:n.466+8C>G
XM_011529383.1:c.490+8C>G	XP_011527685.1:n.490+8C>G
XM_011529384.1:c.466+8C>G	XP_011527686.1:n.466+8C>G
XM_011529385.1:c.466+8C>G	XP_011527687.1:n.466+8C>G
XM_011529386.1:c.1006+8C>G	XP_011527688.1:n.1006+8C>G
XR_937167.1:n.691+8C>G
NM_001363745.1:c.523+8C>G	NP_001350674.1:n.523+8C>G
NR_135000.1:n.691+8C>G
XM_005260856.5:c.1006+8C>G	XP_005260913.1:n.1006+8C>G
XM_011529383.3:c.490+8C>G	XP_011527685.1:n.490+8C>G
XM_017028093.1:c.1006+8C>G	XP_016883582.1:n.1006+8C>G
XM_017028094.1:c.466+8C>G	XP_016883583.1:n.466+8C>G
XM_017028096.1:c.466+8C>G	XP_016883585.1:n.466+8C>G
XM_017028097.1:c.1006+8C>G	XP_016883586.1:n.1006+8C>G
XR_001754419.1:n.1116+8C>G
XR_001754420.2:n.1116+8C>G
NM_001174089.2:c.523+8C>G MANE Select	NP_001167560.1:n.523+8C>G
NM_001363745.2:c.523+8C>G	NP_001350674.1:n.523+8C>G
NM_001174090.2:c.652+8C>G	NP_001167561.1:n.652+8C>G
NM_032034.4:c.571+8C>G	NP_114423.1:n.571+8C>G
NM_001400277.1:c.466+8C>G	NP_001387206.1:n.466+8C>G
NM_001400278.1:c.466+8C>G	NP_001387207.1:n.466+8C>G
NM_001400279.1:c.466+8C>G	NP_001387208.1:n.466+8C>G
NM_001400280.1:c.652+8C>G	NP_001387209.1:n.652+8C>G
NR_174470.1:n.1081+8C>G
NR_174471.1:n.1081+8C>G