Canonical Allele Identifier: CA2841627418
Gene: SLC4A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44254397C>A , CM000679.2:g.44254397C>A GRCh38
NC_000017.10:g.42331765C>A , CM000679.1:g.42331765C>A GRCh37
NC_000017.9:g.39687291C>A NCBI36
NG_007498.1:g.18738G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262418.12:c.2057+99G>T MANE Select ENSP00000262418.6:n.2057+99G>T
ENST00000262418.10:c.2057+99G>T ENSP00000262418.6:n.2057+99G>T
ENST00000399246.3:c.959+99G>T ENSP00000382190.3:n.959+99G>T
NM_000342.3:c.2057+99G>T NP_000333.1:n.2057+99G>T
XM_005257593.3:c.1862+99G>T XP_005257650.1:n.1862+99G>T
XM_011525129.1:c.1967+99G>T XP_011523431.1:n.1967+99G>T
XM_011525130.1:c.2057+99G>T XP_011523432.1:n.2057+99G>T
XM_011525131.1:c.2057+99G>T XP_011523433.1:n.2057+99G>T
XM_005257593.5:c.1862+99G>T XP_005257650.1:n.1862+99G>T
XM_011525129.2:c.1967+99G>T XP_011523431.1:n.1967+99G>T
NM_000342.4:c.2057+99G>T MANE Select NP_000333.1:n.2057+99G>T