Canonical Allele Identifier: CA500285375

Gene: SLC4A1

Linked Data

• dbSNP Id: rs1172373706
• gnomAD v3: 17-44254539-G-A
• gnomAD v4: 17-44254539-G-A
• MyVariant Identifiers: chr17:g.42331907G>A (hg19) ; chr17:g.44254539G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254539G>A , CM000679.2:g.44254539G>A	GRCh38
NC_000017.10:g.42331907G>A , CM000679.1:g.42331907G>A	GRCh37
NC_000017.9:g.39687433G>A	NCBI36
NG_007498.1:g.18596C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.2014C>T MANE Select	ENSP00000262418.6:p.Leu672=
ENST00000262418.10:c.2014C>T	ENSP00000262418.6:p.Leu672=
ENST00000399246.3:c.916C>T	ENSP00000382190.3:p.Leu306=
NM_000342.3:c.2014C>T	NP_000333.1:p.Leu672=
XM_005257593.3:c.1819C>T	XP_005257650.1:p.Leu607=
XM_011525129.1:c.1924C>T	XP_011523431.1:p.Leu642=
XM_011525130.1:c.2014C>T	XP_011523432.1:p.Leu672=
XM_011525131.1:c.2014C>T	XP_011523433.1:p.Leu672=
XM_005257593.5:c.1819C>T	XP_005257650.1:p.Leu607=
XM_011525129.2:c.1924C>T	XP_011523431.1:p.Leu642=
NM_000342.4:c.2014C>T MANE Select	NP_000333.1:p.Leu672=