Canonical Allele Identifier: CA772274120
Gene: SLC4A1 HGNC NCBI

Linked Data

dbSNP Id: rs1488446724
gnomAD v3: 17-44249243-T-C
gnomAD v4: 17-44249243-T-C
MyVariant Identifiers: chr17:g.42326611T>C (hg19) chr17:g.44249243T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44249243T>C , CM000679.2:g.44249243T>C GRCh38
NC_000017.10:g.42326611T>C , CM000679.1:g.42326611T>C GRCh37
NC_000017.9:g.39682137T>C NCBI36
NG_007498.1:g.23892A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262418.12:c.*1215A>G MANE Select ENSP00000262418.6:n.*1215A>G
ENST00000262418.10:c.*1215A>G ENSP00000262418.6:n.*1215A>G
ENST00000399246.3:c.*1215A>G ENSP00000382190.3:n.*1215A>G
ENST00000631130.1:c.-39A>G ENSP00000486787.1:n.-39A>G
NM_000342.3:c.*1215A>G NP_000333.1:n.*1215A>G
XM_005257593.3:c.*1215A>G XP_005257650.1:n.*1215A>G
XM_011525129.1:c.*1215A>G XP_011523431.1:n.*1215A>G
NM_000342.4:c.*1215A>G MANE Select NP_000333.1:n.*1215A>G
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