Canonical Allele Identifier: CA127408

Gene: SLC4A1

Linked Data

• ClinVar Variation Id: 17782
• ClinVar RCV Id: RCV000019360 ; RCV001001070 ; RCV001127476 ; RCV001127475 ; RCV001127477 ; RCV001507896
• dbSNP Id: rs121912757
• ExAC: 17:42331984 C / T
• gnomAD v2: 17-42331984-C-T
• gnomAD v3: 17-44254616-C-T
• gnomAD v4: 17-44254616-C-T
• MyVariant Identifiers: chr17:g.42331984C>T (hg19) ; chr17:g.44254616C>T (hg38)
• PubMed: PMID:11155072

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254616C>T , CM000679.2:g.44254616C>T	GRCh38
NC_000017.10:g.42331984C>T , CM000679.1:g.42331984C>T	GRCh37
NC_000017.9:g.39687510C>T	NCBI36
NG_007498.1:g.18519G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.1937G>A MANE Select	ENSP00000262418.6:p.Arg646Gln
ENST00000262418.10:c.1937G>A	ENSP00000262418.6:p.Arg646Gln
ENST00000399246.3:c.839G>A	ENSP00000382190.3:p.Arg280Gln
NM_000342.3:c.1937G>A	NP_000333.1:p.Arg646Gln
XM_005257593.3:c.1742G>A	XP_005257650.1:p.Arg581Gln
XM_011525129.1:c.1847G>A	XP_011523431.1:p.Arg616Gln
XM_011525130.1:c.1937G>A	XP_011523432.1:p.Arg646Gln
XM_011525131.1:c.1937G>A	XP_011523433.1:p.Arg646Gln
XM_005257593.5:c.1742G>A	XP_005257650.1:p.Arg581Gln
XM_011525129.2:c.1847G>A	XP_011523431.1:p.Arg616Gln
NM_000342.4:c.1937G>A MANE Select	NP_000333.1:p.Arg646Gln