Canonical Allele Identifier: CA10645798
Gene: SLC4A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 323493
ClinVar RCV Id: RCV000285291 RCV000340178 RCV000398976
dbSNP Id: rs45515496
gnomAD v2: 17-42327031-GA-G
gnomAD v3: 17-44249663-GA-G
gnomAD v4: 17-44249663-GA-G
MyVariant Identifiers: chr17:g.42327032del (hg19) chr17:g.44249664del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44249664del , CM000679.2:g.44249664del GRCh38
NC_000017.10:g.42327032del , CM000679.1:g.42327032del GRCh37
NC_000017.9:g.39682558del NCBI36
NG_007498.1:g.23471del

Transcript Alleles

HGVS Amino-acid change
ENST00000262418.12:c.*794del MANE Select ENSP00000262418.6:n.*794del
ENST00000262418.10:c.*794del ENSP00000262418.6:n.*794del
ENST00000399246.3:c.*794del ENSP00000382190.3:n.*794del
ENST00000631130.1:c.-414del ENSP00000486787.1:n.-414del
NM_000342.3:c.*794del NP_000333.1:n.*794del
XM_005257593.3:c.*794del XP_005257650.1:n.*794del
XM_011525129.1:c.*794del XP_011523431.1:n.*794del
XM_005257593.5:c.*794del XP_005257650.1:n.*794del
XM_011525129.2:c.*794del XP_011523431.1:n.*794del
NM_000342.4:c.*794del MANE Select NP_000333.1:n.*794del
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