Canonical Allele Identifier: CA210832

Gene: SLC4A1

Linked Data

• ClinVar Variation Id: 17752
• ClinVar RCV Id: RCV000019328 ; RCV000251469 ; RCV000260217 ; RCV000357412 ; RCV000989926 ; RCV001515404
• dbSNP Id: rs5036
• ExAC: 17:42338945 T / C
• gnomAD v2: 17-42338945-T-C
• gnomAD v3: 17-44261577-T-C
• gnomAD v4: 17-44261577-T-C
• MyVariant Identifiers: chr17:g.42338945T>C (hg19) ; chr17:g.44261577T>C (hg38)
• PubMed: PMID:893429 ; PMID:1419785 ; PMID:1520883 ; PMID:1678289 ; PMID:2146504 ; PMID:2196932 ; PMID:8608262 ; PMID:19229254

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44261577T>C , CM000679.2:g.44261577T>C	GRCh38
NC_000017.10:g.42338945T>C , CM000679.1:g.42338945T>C	GRCh37
NC_000017.9:g.39694471T>C	NCBI36
NG_007498.1:g.11558A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.166A>G MANE Select	ENSP00000262418.6:p.Lys56Glu
ENST00000262418.10:c.166A>G	ENSP00000262418.6:p.Lys56Glu
ENST00000399246.3:c.166A>G	ENSP00000382190.3:p.Lys56Glu
ENST00000471005.5:n.100A>G
ENST00000497360.5:n.305A>G
ENST00000498270.1:n.447A>G
NM_000342.3:c.166A>G	NP_000333.1:p.Lys56Glu
XM_005257593.3:c.-30A>G	XP_005257650.1:n.-30A>G
XM_011525129.1:c.166A>G	XP_011523431.1:p.Lys56Glu
XM_011525130.1:c.166A>G	XP_011523432.1:p.Lys56Glu
XM_011525131.1:c.166A>G	XP_011523433.1:p.Lys56Glu
XM_005257593.5:c.-30A>G	XP_005257650.1:n.-30A>G
XM_011525129.2:c.166A>G	XP_011523431.1:p.Lys56Glu
NM_000342.4:c.166A>G MANE Select	NP_000333.1:p.Lys56Glu