Canonical Allele Identifier: CA127400
Gene: SLC4A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17774
ClinVar RCV Id: RCV000019352 RCV002513121
dbSNP Id: rs121912758
ExAC: 17:42331985 G / A
gnomAD v2: 17-42331985-G-A
gnomAD v3: 17-44254617-G-A
gnomAD v4: 17-44254617-G-A
MyVariant Identifiers: chr17:g.42331985G>A (hg19) chr17:g.44254617G>A (hg38)
PubMed: PMID:11155072
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44254617G>A , CM000679.2:g.44254617G>A GRCh38
NC_000017.10:g.42331985G>A , CM000679.1:g.42331985G>A GRCh37
NC_000017.9:g.39687511G>A NCBI36
NG_007498.1:g.18518C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262418.12:c.1936C>T MANE Select ENSP00000262418.6:p.Arg646Trp
ENST00000262418.10:c.1936C>T ENSP00000262418.6:p.Arg646Trp
ENST00000399246.3:c.838C>T ENSP00000382190.3:p.Arg280Trp
NM_000342.3:c.1936C>T NP_000333.1:p.Arg646Trp
XM_005257593.3:c.1741C>T XP_005257650.1:p.Arg581Trp
XM_011525129.1:c.1846C>T XP_011523431.1:p.Arg616Trp
XM_011525130.1:c.1936C>T XP_011523432.1:p.Arg646Trp
XM_011525131.1:c.1936C>T XP_011523433.1:p.Arg646Trp
XM_005257593.5:c.1741C>T XP_005257650.1:p.Arg581Trp
XM_011525129.2:c.1846C>T XP_011523431.1:p.Arg616Trp
NM_000342.4:c.1936C>T MANE Select NP_000333.1:p.Arg646Trp
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