Canonical Allele Identifier: CA10650258

Gene: SLC4A1

Linked Data

• ClinVar Variation Id: 323495
• ClinVar RCV Id: RCV000297912 ; RCV000371331 ; RCV000403331
• dbSNP Id: rs138242019
• gnomAD v2: 17-42327475-C-A
• gnomAD v3: 17-44250107-C-A
• gnomAD v4: 17-44250107-C-A
• MyVariant Identifiers: chr17:g.42327475C>A (hg19) ; chr17:g.44250107C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44250107C>A , CM000679.2:g.44250107C>A	GRCh38
NC_000017.10:g.42327475C>A , CM000679.1:g.42327475C>A	GRCh37
NC_000017.9:g.39683001C>A	NCBI36
NG_007498.1:g.23028G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.*351G>T MANE Select	ENSP00000262418.6:n.*351G>T
ENST00000262418.10:c.*351G>T	ENSP00000262418.6:n.*351G>T
ENST00000399246.3:c.*351G>T	ENSP00000382190.3:n.*351G>T
NM_000342.3:c.*351G>T	NP_000333.1:n.*351G>T
XM_005257593.3:c.*351G>T	XP_005257650.1:n.*351G>T
XM_011525129.1:c.*351G>T	XP_011523431.1:n.*351G>T
XM_005257593.5:c.*351G>T	XP_005257650.1:n.*351G>T
XM_011525129.2:c.*351G>T	XP_011523431.1:n.*351G>T
NM_000342.4:c.*351G>T MANE Select	NP_000333.1:n.*351G>T