Canonical Allele Identifier: CA2809585972
Gene: SLC4A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44254771G>A , CM000679.2:g.44254771G>A GRCh38
NC_000017.10:g.42332139G>A , CM000679.1:g.42332139G>A GRCh37
NC_000017.9:g.39687665G>A NCBI36
NG_007498.1:g.18364C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262418.12:c.1891-109C>T MANE Select ENSP00000262418.6:n.1891-109C>T
ENST00000262418.10:c.1891-109C>T ENSP00000262418.6:n.1891-109C>T
ENST00000399246.3:c.793-109C>T ENSP00000382190.3:n.793-109C>T
NM_000342.3:c.1891-109C>T NP_000333.1:n.1891-109C>T
XM_005257593.3:c.1696-109C>T XP_005257650.1:n.1696-109C>T
XM_011525129.1:c.1801-109C>T XP_011523431.1:n.1801-109C>T
XM_011525130.1:c.1891-109C>T XP_011523432.1:n.1891-109C>T
XM_011525131.1:c.1891-109C>T XP_011523433.1:n.1891-109C>T
XM_005257593.5:c.1696-109C>T XP_005257650.1:n.1696-109C>T
XM_011525129.2:c.1801-109C>T XP_011523431.1:n.1801-109C>T
NM_000342.4:c.1891-109C>T MANE Select NP_000333.1:n.1891-109C>T