Canonical Allele Identifier: CA4571389

Gene: SLC4A2

Linked Data

• dbSNP Id: rs773628238
• ExAC: 7:150769094 C / A
• gnomAD v2: 7-150769094-C-A
• gnomAD v3: 7-151072007-C-A
• gnomAD v4: 7-151072007-C-A
• MyVariant Identifiers: chr7:g.150769094C>A (hg19) ; chr7:g.151072007C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151072007C>A , CM000669.2:g.151072007C>A	GRCh38
NC_000007.13:g.150769094C>A , CM000669.1:g.150769094C>A	GRCh37
NC_000007.12:g.150400027C>A	NCBI36
NG_051947.1:g.18808C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413384.7:c.2406C>A MANE Select	ENSP00000405600.2:p.Phe802Leu
ENST00000677246.1:c.2406C>A	ENSP00000504447.1:p.Phe802Leu
ENST00000310317.9:c.2160C>A	ENSP00000311402.5:p.Phe720Leu
ENST00000392826.6:c.2379C>A	ENSP00000376571.2:p.Phe793Leu
ENST00000413384.6:c.2406C>A	ENSP00000405600.2:p.Phe802Leu
ENST00000460010.1:n.343C>A
ENST00000461735.1:c.2364C>A	ENSP00000419164.1:p.Phe788Leu
ENST00000472204.1:n.4C>A
ENST00000482697.1:n.175C>A
ENST00000485713.5:c.2406C>A	ENSP00000419412.1:p.Phe802Leu
ENST00000493040.5:n.427C>A
NM_001199692.1:c.2406C>A	NP_001186621.1:p.Phe802Leu
NM_001199693.1:c.2379C>A	NP_001186622.1:p.Phe793Leu
NM_001199694.1:c.2364C>A	NP_001186623.1:p.Phe788Leu
NM_003040.3:c.2406C>A	NP_003031.3:p.Phe802Leu
XM_011516497.1:c.2406C>A	XP_011514799.1:p.Phe802Leu
NM_001199692.2:c.2406C>A	NP_001186621.1:p.Phe802Leu
NM_001199694.2:c.2364C>A	NP_001186623.1:p.Phe788Leu
NM_003040.4:c.2406C>A MANE Select	NP_003031.3:p.Phe802Leu
NM_001199692.3:c.2406C>A	NP_001186621.1:p.Phe802Leu