Canonical Allele Identifier: CA8947498

Gene: SLC14A1

Linked Data

• dbSNP Id: rs757108168
• ExAC: 18:43319514 T / G
• gnomAD v2: 18-43319514-T-G
• gnomAD v4: 18-45739549-T-G
• MyVariant Identifiers: chr18:g.43319514T>G (hg19) ; chr18:g.45739549T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45739549T>G , CM000680.2:g.45739549T>G	GRCh38
NC_000018.9:g.43319514T>G , CM000680.1:g.43319514T>G	GRCh37
NC_000018.8:g.41573512T>G	NCBI36
NG_011775.3:g.20423T>G
NG_011775.4:g.57525T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321925.9:c.833T>G MANE Select	ENSP00000318546.4:p.Phe278Cys
ENST00000502059.7:c.*186T>G	ENSP00000442180.2:n.*186T>G
ENST00000586951.6:c.833T>G	ENSP00000465702.2:p.Phe278Cys
ENST00000588179.6:c.*163T>G	ENSP00000467898.2:n.*163T>G
ENST00000589322.7:c.437T>G	ENSP00000466273.3:p.Phe146Cys
ENST00000321925.8:c.833T>G	ENSP00000318546.4:p.Phe278Cys
ENST00000402943.6:c.518T>G	ENSP00000385320.2:p.Phe173Cys
ENST00000415427.7:c.1001T>G	ENSP00000412309.2:p.Phe334Cys
ENST00000436407.7:c.1001T>G	ENSP00000390637.2:p.Phe334Cys
ENST00000502059.6:c.509T>G	ENSP00000442180.1:p.Phe170Cys
ENST00000535474.5:c.437T>G	ENSP00000441998.1:p.Phe146Cys
ENST00000586142.5:c.833T>G	ENSP00000470476.1:p.Phe278Cys
ENST00000586854.1:n.266T>G
ENST00000588179.5:c.*163T>G	ENSP00000467898.2:n.*163T>G
ENST00000589322.6:c.437T>G	ENSP00000466273.2:p.Phe146Cys
ENST00000589700.5:c.685T>G	ENSP00000465044.1:p.Leu229Val
ENST00000590377.1:c.386+2901T>G
ENST00000591541.2:n.48T>G
ENST00000619403.4:c.685T>G	ENSP00000479595.1:p.Leu229Val
NM_001128588.3:c.1001T>G	NP_001122060.3:p.Phe334Cys
NM_001146036.2:c.833T>G	NP_001139508.2:p.Phe278Cys
NM_001146037.1:c.1001T>G	NP_001139509.1:p.Phe334Cys
NM_001308278.1:c.518T>G	NP_001295207.1:p.Phe173Cys
NM_001308279.1:c.437T>G	NP_001295208.1:p.Phe146Cys
NM_015865.6:c.833T>G	NP_056949.4:p.Phe278Cys
XM_005258329.1:c.1001T>G	XP_005258386.1:p.Phe334Cys
XM_005258333.1:c.437T>G	XP_005258390.1:p.Phe146Cys
XM_006722526.2:c.938T>G	XP_006722589.1:p.Phe313Cys
XM_011526141.1:c.938T>G	XP_011524443.1:p.Phe313Cys
XM_011526142.1:c.938T>G	XP_011524444.1:p.Phe313Cys
XM_011526143.1:c.1001T>G	XP_011524445.1:p.Phe334Cys
XM_011526144.1:c.1001T>G	XP_011524446.1:p.Phe334Cys
XR_935425.1:n.680-1955A>C
NM_015865.7:c.833T>G MANE Select	NP_056949.4:p.Phe278Cys
XM_006722526.3:c.938T>G	XP_006722589.1:p.Phe313Cys
XM_024451238.1:c.833T>G	XP_024307006.1:p.Phe278Cys
XR_001753266.1:n.1199T>G
XR_001753561.1:n.529-1955A>C
XR_935423.2:n.698-1955A>C
NM_001128588.4:c.1001T>G	NP_001122060.3:p.Phe334Cys
NM_001146036.3:c.833T>G	NP_001139508.2:p.Phe278Cys
NM_001308278.2:c.518T>G	NP_001295207.1:p.Phe173Cys
NM_001308279.2:c.437T>G	NP_001295208.1:p.Phe146Cys