Canonical Allele Identifier: CA8599985
Community Standard Title: NM_000342.4(SLC4A1):c.2630T>C (p.Ile877Thr)
Gene: SLC4A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44251184A>G , CM000679.2:g.44251184A>G GRCh38
NC_000017.10:g.42328552A>G , CM000679.1:g.42328552A>G GRCh37
NC_000017.9:g.39684078A>G NCBI36
NG_007498.1:g.21951T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000342.4:c.2630T>C MANE Select NP_000333.1:p.Ile877Thr
ENST00000262418.12:c.2630T>C MANE Select ENSP00000262418.6:p.Ile877Thr
NM_000342.3:c.2630T>C NP_000333.1:p.Ile877Thr
ENST00000262418.10:c.2630T>C ENSP00000262418.6:p.Ile877Thr
ENST00000399246.3:c.1532T>C ENSP00000382190.3:p.Ile511Thr
XM_005257593.3:c.2435T>C XP_005257650.1:p.Ile812Thr
XM_005257593.5:c.2435T>C XP_005257650.1:p.Ile812Thr
XM_011525129.1:c.2540T>C XP_011523431.1:p.Ile847Thr
XM_011525129.2:c.2540T>C XP_011523431.1:p.Ile847Thr
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