Canonical Allele Identifier: CA2261306011
Gene: SLC4A1 HGNC NCBI

Linked Data

dbSNP Id: rs2047322080

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44249664A>G , CM000679.2:g.44249664A>G GRCh38
NC_000017.10:g.42327032A>G , CM000679.1:g.42327032A>G GRCh37
NC_000017.9:g.39682558A>G NCBI36
NG_007498.1:g.23471T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262418.12:c.*794T>C MANE Select ENSP00000262418.6:n.*794T>C
ENST00000262418.10:c.*794T>C ENSP00000262418.6:n.*794T>C
ENST00000399246.3:c.*794T>C ENSP00000382190.3:n.*794T>C
ENST00000631130.1:c.-414T>C ENSP00000486787.1:n.-414T>C
NM_000342.3:c.*794T>C NP_000333.1:n.*794T>C
XM_005257593.3:c.*794T>C XP_005257650.1:n.*794T>C
XM_011525129.1:c.*794T>C XP_011523431.1:n.*794T>C
XM_005257593.5:c.*794T>C XP_005257650.1:n.*794T>C
XM_011525129.2:c.*794T>C XP_011523431.1:n.*794T>C
NM_000342.4:c.*794T>C MANE Select NP_000333.1:n.*794T>C