Canonical Allele Identifier: CA215058
Gene: SLC4A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 218182
ClinVar RCV Id: RCV000202410
dbSNP Id: rs863225461
MyVariant Identifiers: chr17:g.42330606A>G (hg19) chr17:g.44253238A>G (hg38)
PubMed: PMID:10554820 PMID:11442486 PMID:16227998
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44253238A>G , CM000679.2:g.44253238A>G GRCh38
NC_000017.10:g.42330606A>G , CM000679.1:g.42330606A>G GRCh37
NC_000017.9:g.39686132A>G NCBI36
NG_007498.1:g.19897T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000262418.12:c.2191T>C MANE Select ENSP00000262418.6:p.Ser731Pro
ENST00000262418.10:c.2191T>C ENSP00000262418.6:p.Ser731Pro
ENST00000399246.3:c.1093T>C ENSP00000382190.3:p.Ser365Pro
NM_000342.3:c.2191T>C NP_000333.1:p.Ser731Pro
XM_005257593.3:c.1996T>C XP_005257650.1:p.Ser666Pro
XM_011525129.1:c.2101T>C XP_011523431.1:p.Ser701Pro
XM_011525130.1:c.2191T>C XP_011523432.1:p.Ser731Pro
XM_005257593.5:c.1996T>C XP_005257650.1:p.Ser666Pro
XM_011525129.2:c.2101T>C XP_011523431.1:p.Ser701Pro
NM_000342.4:c.2191T>C MANE Select NP_000333.1:p.Ser731Pro
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