Canonical Allele Identifier: CA127408
Gene: SLC4A1 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.44254616C>T
GRCh37 chr17:g.42331984C>T
Revel Score:
ENST00000262418 (MANE Select) 0.714
gnomAD v2:
17:42331984 C / T
gnomAD v3:
17:44254616 C / T
gnomAD v4:
chr17-44254616-C-T
Joint Max Group AF 0.00002745 (NFE)
Genomes Max Group AF 0.000008 (AFR)
Exomes Max Group AF 0.00002828 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44254616C>T , CM000679.2:g.44254616C>T GRCh38
NC_000017.10:g.42331984C>T , CM000679.1:g.42331984C>T GRCh37
NC_000017.9:g.39687510C>T NCBI36
NG_007498.1:g.18519G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262418.12:c.1937G>A MANE Select ENSP00000262418.6:p.Arg646Gln
ENST00000262418.10:c.1937G>A ENSP00000262418.6:p.Arg646Gln
ENST00000399246.3:c.839G>A ENSP00000382190.3:p.Arg280Gln
NM_000342.3:c.1937G>A NP_000333.1:p.Arg646Gln
XM_005257593.3:c.1742G>A XP_005257650.1:p.Arg581Gln
XM_011525129.1:c.1847G>A XP_011523431.1:p.Arg616Gln
XM_011525130.1:c.1937G>A XP_011523432.1:p.Arg646Gln
XM_011525131.1:c.1937G>A XP_011523433.1:p.Arg646Gln
XM_005257593.5:c.1742G>A XP_005257650.1:p.Arg581Gln
XM_011525129.2:c.1847G>A XP_011523431.1:p.Arg616Gln
NM_000342.4:c.1937G>A MANE Select NP_000333.1:p.Arg646Gln
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