Canonical Allele Identifier: CA290928672

Gene: SLC4A1

Linked Data

• dbSNP Id: rs918268309
• gnomAD v4: 17-44254699-A-T
• MyVariant Identifiers: chr17:g.42332067A>T (hg19) ; chr17:g.44254699A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254699A>T , CM000679.2:g.44254699A>T	GRCh38
NC_000017.10:g.42332067A>T , CM000679.1:g.42332067A>T	GRCh37
NC_000017.9:g.39687593A>T	NCBI36
NG_007498.1:g.18436T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.1891-37T>A MANE Select	ENSP00000262418.6:n.1891-37T>A
ENST00000262418.10:c.1891-37T>A	ENSP00000262418.6:n.1891-37T>A
ENST00000399246.3:c.793-37T>A	ENSP00000382190.3:n.793-37T>A
NM_000342.3:c.1891-37T>A	NP_000333.1:n.1891-37T>A
XM_005257593.3:c.1696-37T>A	XP_005257650.1:n.1696-37T>A
XM_011525129.1:c.1801-37T>A	XP_011523431.1:n.1801-37T>A
XM_011525130.1:c.1891-37T>A	XP_011523432.1:n.1891-37T>A
XM_011525131.1:c.1891-37T>A	XP_011523433.1:n.1891-37T>A
XM_005257593.5:c.1696-37T>A	XP_005257650.1:n.1696-37T>A
XM_011525129.2:c.1801-37T>A	XP_011523431.1:n.1801-37T>A
NM_000342.4:c.1891-37T>A MANE Select	NP_000333.1:n.1891-37T>A