Canonical Allele Identifier: CA127396
Gene: SLC4A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17771
ClinVar RCV Id: RCV000019348 RCV000761459 RCV001536017 RCV001849274 RCV002514116
dbSNP Id: rs121912751
ExAC: 17:42328609 G / T
gnomAD v2: 17-42328609-G-T
gnomAD v3: 17-44251241-G-T
gnomAD v4: 17-44251241-G-T
MyVariant Identifiers: chr17:g.42328609G>T (hg19) chr17:g.44251241G>T (hg38)
PubMed: PMID:10926824
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44251241G>T , CM000679.2:g.44251241G>T GRCh38
NC_000017.10:g.42328609G>T , CM000679.1:g.42328609G>T GRCh37
NC_000017.9:g.39684135G>T NCBI36
NG_007498.1:g.21894C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000262418.12:c.2573C>A MANE Select ENSP00000262418.6:p.Ala858Asp
ENST00000262418.10:c.2573C>A ENSP00000262418.6:p.Ala858Asp
ENST00000399246.3:c.1475C>A ENSP00000382190.3:p.Ala492Asp
NM_000342.3:c.2573C>A NP_000333.1:p.Ala858Asp
XM_005257593.3:c.2378C>A XP_005257650.1:p.Ala793Asp
XM_011525129.1:c.2483C>A XP_011523431.1:p.Ala828Asp
XM_005257593.5:c.2378C>A XP_005257650.1:p.Ala793Asp
XM_011525129.2:c.2483C>A XP_011523431.1:p.Ala828Asp
NM_000342.4:c.2573C>A MANE Select NP_000333.1:p.Ala858Asp
Search 100 bp 5'
Search 100 bp 3'