Canonical Allele Identifier: CA127396

Gene: SLC4A1

Linked Data

• ClinVar Variation Id: 17771
• ClinVar RCV Id: RCV000019348 ; RCV000761459 ; RCV001536017 ; RCV001849274 ; RCV002514116
• dbSNP Id: rs121912751
• ExAC: 17:42328609 G / T
• gnomAD v2: 17-42328609-G-T
• gnomAD v3: 17-44251241-G-T
• gnomAD v4: 17-44251241-G-T
• MyVariant Identifiers: chr17:g.42328609G>T (hg19) ; chr17:g.44251241G>T (hg38)
• PubMed: PMID:10926824

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44251241G>T , CM000679.2:g.44251241G>T	GRCh38
NC_000017.10:g.42328609G>T , CM000679.1:g.42328609G>T	GRCh37
NC_000017.9:g.39684135G>T	NCBI36
NG_007498.1:g.21894C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.2573C>A MANE Select	ENSP00000262418.6:p.Ala858Asp
ENST00000262418.10:c.2573C>A	ENSP00000262418.6:p.Ala858Asp
ENST00000399246.3:c.1475C>A	ENSP00000382190.3:p.Ala492Asp
NM_000342.3:c.2573C>A	NP_000333.1:p.Ala858Asp
XM_005257593.3:c.2378C>A	XP_005257650.1:p.Ala793Asp
XM_011525129.1:c.2483C>A	XP_011523431.1:p.Ala828Asp
XM_005257593.5:c.2378C>A	XP_005257650.1:p.Ala793Asp
XM_011525129.2:c.2483C>A	XP_011523431.1:p.Ala828Asp
NM_000342.4:c.2573C>A MANE Select	NP_000333.1:p.Ala858Asp