Canonical Allele Identifier: CA2638189722
Gene: SLC4A1 HGNC NCBI

Linked Data

gnomAD v4: 17-44249753-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44249753G>T , CM000679.2:g.44249753G>T GRCh38
NC_000017.10:g.42327121G>T , CM000679.1:g.42327121G>T GRCh37
NC_000017.9:g.39682647G>T NCBI36
NG_007498.1:g.23382C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262418.12:c.*705C>A MANE Select ENSP00000262418.6:n.*705C>A
ENST00000262418.10:c.*705C>A ENSP00000262418.6:n.*705C>A
ENST00000399246.3:c.*705C>A ENSP00000382190.3:n.*705C>A
ENST00000631130.1:c.-503C>A ENSP00000486787.1:n.-503C>A
NM_000342.3:c.*705C>A NP_000333.1:n.*705C>A
XM_005257593.3:c.*705C>A XP_005257650.1:n.*705C>A
XM_011525129.1:c.*705C>A XP_011523431.1:n.*705C>A
XM_005257593.5:c.*705C>A XP_005257650.1:n.*705C>A
XM_011525129.2:c.*705C>A XP_011523431.1:n.*705C>A
NM_000342.4:c.*705C>A MANE Select NP_000333.1:n.*705C>A
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