Canonical Allele Identifier: CA399782638

Gene: SLC4A1

Linked Data

• MyVariant Identifiers: chr17:g.42331892G>T (hg19) ; chr17:g.44254524G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254524G>T , CM000679.2:g.44254524G>T	GRCh38
NC_000017.10:g.42331892G>T , CM000679.1:g.42331892G>T	GRCh37
NC_000017.9:g.39687418G>T	NCBI36
NG_007498.1:g.18611C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.2029C>A MANE Select	ENSP00000262418.6:p.Leu677Ile
ENST00000262418.10:c.2029C>A	ENSP00000262418.6:p.Leu677Ile
ENST00000399246.3:c.931C>A	ENSP00000382190.3:p.Leu311Ile
NM_000342.3:c.2029C>A	NP_000333.1:p.Leu677Ile
XM_005257593.3:c.1834C>A	XP_005257650.1:p.Leu612Ile
XM_011525129.1:c.1939C>A	XP_011523431.1:p.Leu647Ile
XM_011525130.1:c.2029C>A	XP_011523432.1:p.Leu677Ile
XM_011525131.1:c.2029C>A	XP_011523433.1:p.Leu677Ile
XM_005257593.5:c.1834C>A	XP_005257650.1:p.Leu612Ile
XM_011525129.2:c.1939C>A	XP_011523431.1:p.Leu647Ile
NM_000342.4:c.2029C>A MANE Select	NP_000333.1:p.Leu677Ile