Canonical Allele Identifier: CA2261306044
Gene: SLC4A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44249738G= , CM000679.2:g.44249738G= GRCh38
NC_000017.10:g.42327106G= , CM000679.1:g.42327106G= GRCh37
NC_000017.9:g.39682632G= NCBI36
NG_007498.1:g.23397C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262418.12:c.*720C= MANE Select ENSP00000262418.6:n.*720C=
ENST00000262418.10:c.*720C= ENSP00000262418.6:n.*720C=
ENST00000399246.3:c.*720C= ENSP00000382190.3:n.*720C=
ENST00000631130.1:c.-488C= ENSP00000486787.1:n.-488C=
NM_000342.3:c.*720C= NP_000333.1:n.*720C=
XM_005257593.3:c.*720C= XP_005257650.1:n.*720C=
XM_011525129.1:c.*720C= XP_011523431.1:n.*720C=
XM_005257593.5:c.*720C= XP_005257650.1:n.*720C=
XM_011525129.2:c.*720C= XP_011523431.1:n.*720C=
NM_000342.4:c.*720C= MANE Select NP_000333.1:n.*720C=