Canonical Allele Identifier: CA8600562

Gene: SLC4A1

Linked Data

• ClinVar Variation Id: 255914
• ClinVar RCV Id: RCV000253978 ; RCV000709888 ; RCV000756654 ; RCV001127762 ; RCV001127763 ; RCV001127764
• dbSNP Id: rs147390654
• ExAC: 17:42337247 C / T
• gnomAD v2: 17-42337247-C-T
• gnomAD v3: 17-44259879-C-T
• gnomAD v4: 17-44259879-C-T
• MyVariant Identifiers: chr17:g.42337247C>T (hg19) ; chr17:g.44259879C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44259879C>T , CM000679.2:g.44259879C>T	GRCh38
NC_000017.10:g.42337247C>T , CM000679.1:g.42337247C>T	GRCh37
NC_000017.9:g.39692773C>T	NCBI36
NG_007498.1:g.13256G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.539G>A MANE Select	ENSP00000262418.6:p.Arg180His
ENST00000262418.10:c.539G>A	ENSP00000262418.6:p.Arg180His
ENST00000399246.3:c.539G>A	ENSP00000382190.3:p.Arg180His
ENST00000497360.5:n.678G>A
NM_000342.3:c.539G>A	NP_000333.1:p.Arg180His
XM_005257593.3:c.344G>A	XP_005257650.1:p.Arg115His
XM_011525129.1:c.539G>A	XP_011523431.1:p.Arg180His
XM_011525130.1:c.539G>A	XP_011523432.1:p.Arg180His
XM_011525131.1:c.539G>A	XP_011523433.1:p.Arg180His
XM_005257593.5:c.344G>A	XP_005257650.1:p.Arg115His
XM_011525129.2:c.539G>A	XP_011523431.1:p.Arg180His
NM_000342.4:c.539G>A MANE Select	NP_000333.1:p.Arg180His