Canonical Allele Identifier: CA399787649

Gene: SLC4A1

Linked Data

• ClinVar Variation Id: 544807
• ClinVar RCV Id: RCV000655904
• dbSNP Id: rs1555596165
• MyVariant Identifiers: chr17:g.42335136A>C (hg19) ; chr17:g.44257768A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44257768A>C , CM000679.2:g.44257768A>C	GRCh38
NC_000017.10:g.42335136A>C , CM000679.1:g.42335136A>C	GRCh37
NC_000017.9:g.39690662A>C	NCBI36
NG_007498.1:g.15367T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.1322T>G MANE Select	ENSP00000262418.6:p.Leu441Arg
ENST00000262418.10:c.1322T>G	ENSP00000262418.6:p.Leu441Arg
ENST00000399246.3:c.777+1494T>G	ENSP00000382190.3:n.777+1494T>G
ENST00000497360.5:n.1461T>G
NM_000342.3:c.1322T>G	NP_000333.1:p.Leu441Arg
XM_005257593.3:c.1127T>G	XP_005257650.1:p.Leu376Arg
XM_011525129.1:c.1322T>G	XP_011523431.1:p.Leu441Arg
XM_011525130.1:c.1322T>G	XP_011523432.1:p.Leu441Arg
XM_011525131.1:c.1322T>G	XP_011523433.1:p.Leu441Arg
XM_005257593.5:c.1127T>G	XP_005257650.1:p.Leu376Arg
XM_011525129.2:c.1322T>G	XP_011523431.1:p.Leu441Arg
NM_000342.4:c.1322T>G MANE Select	NP_000333.1:p.Leu441Arg