Canonical Allele Identifier: CA8600148

Gene: SLC4A1

Linked Data

• ClinVar Variation Id: 1333541
• ClinVar RCV Id: RCV001808229 ; RCV003136166
• dbSNP Id: rs368353943
• ExAC: 17:42331919 C / T
• gnomAD v2: 17-42331919-C-T
• gnomAD v3: 17-44254551-C-T
• gnomAD v4: 17-44254551-C-T
• MyVariant Identifiers: chr17:g.42331919C>T (hg19) ; chr17:g.44254551C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254551C>T , CM000679.2:g.44254551C>T	GRCh38
NC_000017.10:g.42331919C>T , CM000679.1:g.42331919C>T	GRCh37
NC_000017.9:g.39687445C>T	NCBI36
NG_007498.1:g.18584G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.2002G>A MANE Select	ENSP00000262418.6:p.Ala668Thr
ENST00000262418.10:c.2002G>A	ENSP00000262418.6:p.Ala668Thr
ENST00000399246.3:c.904G>A	ENSP00000382190.3:p.Ala302Thr
NM_000342.3:c.2002G>A	NP_000333.1:p.Ala668Thr
XM_005257593.3:c.1807G>A	XP_005257650.1:p.Ala603Thr
XM_011525129.1:c.1912G>A	XP_011523431.1:p.Ala638Thr
XM_011525130.1:c.2002G>A	XP_011523432.1:p.Ala668Thr
XM_011525131.1:c.2002G>A	XP_011523433.1:p.Ala668Thr
XM_005257593.5:c.1807G>A	XP_005257650.1:p.Ala603Thr
XM_011525129.2:c.1912G>A	XP_011523431.1:p.Ala638Thr
NM_000342.4:c.2002G>A MANE Select	NP_000333.1:p.Ala668Thr