Canonical Allele Identifier: CA9742322

Gene: SLC4A11

Linked Data

• ClinVar Variation Id: 1109863
• ClinVar RCV Id: RCV001435881
• dbSNP Id: rs199629038
• ExAC: 20:3214901 G / A
• gnomAD v2: 20-3214901-G-A
• gnomAD v3: 20-3234255-G-A
• gnomAD v4: 20-3234255-G-A
• MyVariant Identifiers: chr20:g.3214901G>A (hg19) ; chr20:g.3234255G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3234255G>A , CM000682.2:g.3234255G>A	GRCh38
NC_000020.10:g.3214901G>A , CM000682.1:g.3214901G>A	GRCh37
NC_000020.9:g.3162901G>A	NCBI36
NG_017072.1:g.9987C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642402.1:c.351C>T MANE Select	ENSP00000493503.1:p.Phe117=
ENST00000644011.1:c.292-10C>T	ENSP00000496214.1:n.292-10C>T
ENST00000644692.1:c.294C>T	ENSP00000493824.1:p.Phe98=
ENST00000647296.1:c.351C>T	ENSP00000495050.1:p.Phe117=
ENST00000380056.7:c.399C>T	ENSP00000369396.3:p.Phe133=
ENST00000380059.7:c.480C>T	ENSP00000369399.3:p.Phe160=
ENST00000437836.2:c.294C>T	ENSP00000404271.2:p.Phe98=
ENST00000474451.5:c.294C>T	ENSP00000476859.1:p.Phe98=
ENST00000539553.6:c.351C>T	ENSP00000441370.1:p.Phe117=
NM_001174089.1:c.351C>T	NP_001167560.1:p.Phe117=
NM_001174090.1:c.480C>T	NP_001167561.1:p.Phe160=
NM_032034.3:c.399C>T	NP_114423.1:p.Phe133=
XM_005260856.3:c.834C>T	XP_005260913.1:p.Phe278=
XM_005260857.1:c.294C>T	XP_005260914.1:p.Phe98=
XM_011529383.1:c.318C>T	XP_011527685.1:p.Phe106=
XM_011529384.1:c.294C>T	XP_011527686.1:p.Phe98=
XM_011529385.1:c.294C>T	XP_011527687.1:p.Phe98=
XM_011529386.1:c.834C>T	XP_011527688.1:p.Phe278=
XR_937167.1:n.519C>T
NM_001363745.1:c.351C>T	NP_001350674.1:p.Phe117=
NR_135000.1:n.519C>T
XM_005260856.5:c.834C>T	XP_005260913.1:p.Phe278=
XM_011529383.3:c.318C>T	XP_011527685.1:p.Phe106=
XM_017028093.1:c.834C>T	XP_016883582.1:p.Phe278=
XM_017028094.1:c.294C>T	XP_016883583.1:p.Phe98=
XM_017028096.1:c.294C>T	XP_016883585.1:p.Phe98=
XM_017028097.1:c.834C>T	XP_016883586.1:p.Phe278=
XR_001754419.1:n.944C>T
XR_001754420.2:n.944C>T
NM_001174089.2:c.351C>T MANE Select	NP_001167560.1:p.Phe117=
NM_001363745.2:c.351C>T	NP_001350674.1:p.Phe117=
NM_001174090.2:c.480C>T	NP_001167561.1:p.Phe160=
NM_032034.4:c.399C>T	NP_114423.1:p.Phe133=
NM_001400277.1:c.294C>T	NP_001387206.1:p.Phe98=
NM_001400278.1:c.294C>T	NP_001387207.1:p.Phe98=
NM_001400279.1:c.294C>T	NP_001387208.1:p.Phe98=
NM_001400280.1:c.480C>T	NP_001387209.1:p.Phe160=
NR_174470.1:n.909C>T
NR_174471.1:n.909C>T