Canonical Allele Identifier: CA370007850

Gene: SLC4A2

Linked Data

• dbSNP Id: rs1243025651
• gnomAD v2: 7-150761354-C-A
• gnomAD v4: 7-151064267-C-A
• MyVariant Identifiers: chr7:g.150761354C>A (hg19) ; chr7:g.151064267C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151064267C>A , CM000669.2:g.151064267C>A	GRCh38
NC_000007.13:g.150761354C>A , CM000669.1:g.150761354C>A	GRCh37
NC_000007.12:g.150392287C>A	NCBI36
NG_051947.1:g.11068C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413384.7:c.117C>A MANE Select	ENSP00000405600.2:p.His39Gln
ENST00000677246.1:c.117C>A	ENSP00000504447.1:p.His39Gln
ENST00000310317.9:c.52-338C>A	ENSP00000311402.5:n.52-338C>A
ENST00000392826.6:c.90C>A	ENSP00000376571.2:p.His30Gln
ENST00000413384.6:c.117C>A	ENSP00000405600.2:p.His39Gln
ENST00000461735.1:c.75C>A	ENSP00000419164.1:p.His25Gln
ENST00000463414.5:c.117C>A	ENSP00000418584.1:p.His39Gln
ENST00000482950.5:c.117C>A	ENSP00000419379.1:p.His39Gln
ENST00000483786.5:c.117C>A	ENSP00000417808.1:p.His39Gln
ENST00000485713.5:c.117C>A	ENSP00000419412.1:p.His39Gln
ENST00000488420.1:c.117C>A	ENSP00000417221.1:p.His39Gln
ENST00000490898.5:c.117C>A	ENSP00000418114.1:p.His39Gln
ENST00000494125.1:n.352C>A
NM_001199692.1:c.117C>A	NP_001186621.1:p.His39Gln
NM_001199693.1:c.90C>A	NP_001186622.1:p.His30Gln
NM_001199694.1:c.75C>A	NP_001186623.1:p.His25Gln
NM_003040.3:c.117C>A	NP_003031.3:p.His39Gln
XM_006716094.2:c.117C>A	XP_006716157.1:p.His39Gln
XM_011516497.1:c.117C>A	XP_011514799.1:p.His39Gln
NM_001199692.2:c.117C>A	NP_001186621.1:p.His39Gln
NM_001199694.2:c.75C>A	NP_001186623.1:p.His25Gln
XM_006716094.3:c.117C>A	XP_006716157.1:p.His39Gln
NM_003040.4:c.117C>A MANE Select	NP_003031.3:p.His39Gln
NM_001199692.3:c.117C>A	NP_001186621.1:p.His39Gln