Canonical Allele Identifier: CA2261305778
Gene: SLC4A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44249154G= , CM000679.2:g.44249154G= GRCh38
NC_000017.10:g.42326522G= , CM000679.1:g.42326522G= GRCh37
NC_000017.9:g.39682048G= NCBI36
NG_007498.1:g.23981C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262418.12:c.*1304C= MANE Select ENSP00000262418.6:n.*1304C=
ENST00000262418.10:c.*1304C= ENSP00000262418.6:n.*1304C=
ENST00000399246.3:c.*1304C= ENSP00000382190.3:n.*1304C=
ENST00000631130.1:c.51C= ENSP00000486787.1:p.Gly17=
NM_000342.3:c.*1304C= NP_000333.1:n.*1304C=
XM_005257593.3:c.*1304C= XP_005257650.1:n.*1304C=
XM_011525129.1:c.*1304C= XP_011523431.1:n.*1304C=
NM_000342.4:c.*1304C= MANE Select NP_000333.1:n.*1304C=