Canonical Allele Identifier: CA210834

Gene: SLC4A1

Linked Data

• ClinVar Variation Id: 17780
• ClinVar RCV Id: RCV000019358 ; RCV002227042
• dbSNP Id: rs121912755
• gnomAD v4: 17-44253150-C-T
• MyVariant Identifiers: chr17:g.42330518C>T (hg19) ; chr17:g.44253150C>T (hg38)
• PubMed: PMID:7530501 ; PMID:16227998

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44253150C>T , CM000679.2:g.44253150C>T	GRCh38
NC_000017.10:g.42330518C>T , CM000679.1:g.42330518C>T	GRCh37
NC_000017.9:g.39686044C>T	NCBI36
NG_007498.1:g.19985G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.2279G>A MANE Select	ENSP00000262418.6:p.Arg760Gln
ENST00000262418.10:c.2279G>A	ENSP00000262418.6:p.Arg760Gln
ENST00000399246.3:c.1181G>A	ENSP00000382190.3:p.Arg394Gln
NM_000342.3:c.2279G>A	NP_000333.1:p.Arg760Gln
XM_005257593.3:c.2084G>A	XP_005257650.1:p.Arg695Gln
XM_011525129.1:c.2189G>A	XP_011523431.1:p.Arg730Gln
XM_011525130.1:c.2279G>A	XP_011523432.1:p.Arg760Gln
XM_005257593.5:c.2084G>A	XP_005257650.1:p.Arg695Gln
XM_011525129.2:c.2189G>A	XP_011523431.1:p.Arg730Gln
NM_000342.4:c.2279G>A MANE Select	NP_000333.1:p.Arg760Gln