Canonical Allele Identifier: CA8600408
Gene: SLC4A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1162819
ClinVar RCV Id: RCV001507385 RCV002488301
dbSNP Id: rs141370158
ExAC: 17:42335883 C / T
gnomAD v2: 17-42335883-C-T
gnomAD v3: 17-44258515-C-T
gnomAD v4: 17-44258515-C-T
COSMIC: COSM3378213
MyVariant Identifiers: chr17:g.42335883C>T (hg19) chr17:g.44258515C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44258515C>T , CM000679.2:g.44258515C>T GRCh38
NC_000017.10:g.42335883C>T , CM000679.1:g.42335883C>T GRCh37
NC_000017.9:g.39691409C>T NCBI36
NG_007498.1:g.14620G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000262418.12:c.985G>A MANE Select ENSP00000262418.6:p.Glu329Lys
ENST00000262418.10:c.985G>A ENSP00000262418.6:p.Glu329Lys
ENST00000399246.3:c.777+747G>A ENSP00000382190.3:n.777+747G>A
ENST00000497360.5:n.1124G>A
NM_000342.3:c.985G>A NP_000333.1:p.Glu329Lys
XM_005257593.3:c.790G>A XP_005257650.1:p.Glu264Lys
XM_011525129.1:c.985G>A XP_011523431.1:p.Glu329Lys
XM_011525130.1:c.985G>A XP_011523432.1:p.Glu329Lys
XM_011525131.1:c.985G>A XP_011523433.1:p.Glu329Lys
XM_005257593.5:c.790G>A XP_005257650.1:p.Glu264Lys
XM_011525129.2:c.985G>A XP_011523431.1:p.Glu329Lys
NM_000342.4:c.985G>A MANE Select NP_000333.1:p.Glu329Lys
Search 100 bp 5'
Search 100 bp 3'