Canonical Allele Identifier: CA399782646

Gene: SLC4A1

Linked Data

• MyVariant Identifiers: chr17:g.42331895T>A (hg19) ; chr17:g.44254527T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254527T>A , CM000679.2:g.44254527T>A	GRCh38
NC_000017.10:g.42331895T>A , CM000679.1:g.42331895T>A	GRCh37
NC_000017.9:g.39687421T>A	NCBI36
NG_007498.1:g.18608A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.2026A>T MANE Select	ENSP00000262418.6:p.Ile676Phe
ENST00000262418.10:c.2026A>T	ENSP00000262418.6:p.Ile676Phe
ENST00000399246.3:c.928A>T	ENSP00000382190.3:p.Ile310Phe
NM_000342.3:c.2026A>T	NP_000333.1:p.Ile676Phe
XM_005257593.3:c.1831A>T	XP_005257650.1:p.Ile611Phe
XM_011525129.1:c.1936A>T	XP_011523431.1:p.Ile646Phe
XM_011525130.1:c.2026A>T	XP_011523432.1:p.Ile676Phe
XM_011525131.1:c.2026A>T	XP_011523433.1:p.Ile676Phe
XM_005257593.5:c.1831A>T	XP_005257650.1:p.Ile611Phe
XM_011525129.2:c.1936A>T	XP_011523431.1:p.Ile646Phe
NM_000342.4:c.2026A>T MANE Select	NP_000333.1:p.Ile676Phe