Canonical Allele Identifier: CA8600670

Gene: SLC4A1

Linked Data

• ClinVar Variation Id: 323519
• ClinVar RCV Id: RCV000288475 ; RCV000345874 ; RCV000401440 ; RCV001850728 ; RCV004549702
• dbSNP Id: rs13306787
• ExAC: 17:42338150 C / T
• gnomAD v2: 17-42338150-C-T
• gnomAD v3: 17-44260782-C-T
• gnomAD v4: 17-44260782-C-T
• COSMIC: COSM3518039
• MyVariant Identifiers: chr17:g.42338150C>T (hg19) ; chr17:g.44260782C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44260782C>T , CM000679.2:g.44260782C>T	GRCh38
NC_000017.10:g.42338150C>T , CM000679.1:g.42338150C>T	GRCh37
NC_000017.9:g.39693676C>T	NCBI36
NG_007498.1:g.12353G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.202G>A MANE Select	ENSP00000262418.6:p.Glu68Lys
ENST00000262418.10:c.202G>A	ENSP00000262418.6:p.Glu68Lys
ENST00000399246.3:c.202G>A	ENSP00000382190.3:p.Glu68Lys
ENST00000471005.5:n.136G>A
ENST00000497360.5:n.341G>A
NM_000342.3:c.202G>A	NP_000333.1:p.Glu68Lys
XM_005257593.3:c.7G>A	XP_005257650.1:p.Glu3Lys
XM_011525129.1:c.202G>A	XP_011523431.1:p.Glu68Lys
XM_011525130.1:c.202G>A	XP_011523432.1:p.Glu68Lys
XM_011525131.1:c.202G>A	XP_011523433.1:p.Glu68Lys
XM_005257593.5:c.7G>A	XP_005257650.1:p.Glu3Lys
XM_011525129.2:c.202G>A	XP_011523431.1:p.Glu68Lys
NM_000342.4:c.202G>A MANE Select	NP_000333.1:p.Glu68Lys