Canonical Allele Identifier: CA2697559954

Gene: SLC4A1

Linked Data

• ClinVar Variation Id: 2690715
• ClinVar RCV Id: RCV003489435

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000262418.12:c.2026dup MANE Select	ENSP00000262418.6:p.Ile676AsnfsTer18
ENST00000262418.10:c.2026dup	ENSP00000262418.6:p.Ile676AsnfsTer18
ENST00000399246.3:c.928dup	ENSP00000382190.3:p.Ile310AsnfsTer18
NM_000342.3:c.2026dup	NP_000333.1:p.Ile676AsnfsTer18
XM_005257593.3:c.1831dup	XP_005257650.1:p.Ile611AsnfsTer18
XM_011525129.1:c.1936dup	XP_011523431.1:p.Ile646AsnfsTer18
XM_011525130.1:c.2026dup	XP_011523432.1:p.Ile676AsnfsTer18
XM_011525131.1:c.2026dup	XP_011523433.1:p.Ile676AsnfsTer?
XM_005257593.5:c.1831dup	XP_005257650.1:p.Ile611AsnfsTer18
XM_011525129.2:c.1936dup	XP_011523431.1:p.Ile646AsnfsTer18
NM_000342.4:c.2026dup MANE Select	NP_000333.1:p.Ile676AsnfsTer18