Canonical Allele Identifier: CA8600443

Gene: SLC4A1

Linked Data

• ClinVar Variation Id: 323513
• ClinVar RCV Id: RCV000310154 ; RCV000362485 ; RCV000391080 ; RCV002056603
• dbSNP Id: rs571092411
• ExAC: 17:42336517 C / T
• gnomAD v2: 17-42336517-C-T
• gnomAD v3: 17-44259149-C-T
• gnomAD v4: 17-44259149-C-T
• MyVariant Identifiers: chr17:g.42336517C>T (hg19) ; chr17:g.44259149C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44259149C>T , CM000679.2:g.44259149C>T	GRCh38
NC_000017.10:g.42336517C>T , CM000679.1:g.42336517C>T	GRCh37
NC_000017.9:g.39692043C>T	NCBI36
NG_007498.1:g.13986G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.876+14G>A MANE Select	ENSP00000262418.6:n.876+14G>A
ENST00000262418.10:c.876+14G>A	ENSP00000262418.6:n.876+14G>A
ENST00000399246.3:c.777+113G>A	ENSP00000382190.3:n.777+113G>A
ENST00000497360.5:n.1015+14G>A
NM_000342.3:c.876+14G>A	NP_000333.1:n.876+14G>A
XM_005257593.3:c.681+14G>A	XP_005257650.1:n.681+14G>A
XM_011525129.1:c.876+14G>A	XP_011523431.1:n.876+14G>A
XM_011525130.1:c.876+14G>A	XP_011523432.1:n.876+14G>A
XM_011525131.1:c.876+14G>A	XP_011523433.1:n.876+14G>A
XM_005257593.5:c.681+14G>A	XP_005257650.1:n.681+14G>A
XM_011525129.2:c.876+14G>A	XP_011523431.1:n.876+14G>A
NM_000342.4:c.876+14G>A MANE Select	NP_000333.1:n.876+14G>A