Canonical Allele Identifier: CA772273790
Gene: SLC4A1 HGNC NCBI

Linked Data

dbSNP Id: rs1302017019
MyVariant Identifiers: chr17:g.42326457T>C (hg19) chr17:g.44249089T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44249089T>C , CM000679.2:g.44249089T>C GRCh38
NC_000017.10:g.42326457T>C , CM000679.1:g.42326457T>C GRCh37
NC_000017.9:g.39681983T>C NCBI36
NG_007498.1:g.24046A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262418.12:c.*1369A>G MANE Select ENSP00000262418.6:n.*1369A>G
ENST00000262418.10:c.*1369A>G ENSP00000262418.6:n.*1369A>G
ENST00000399246.3:c.*1369A>G ENSP00000382190.3:n.*1369A>G
ENST00000631130.1:c.*5A>G ENSP00000486787.1:n.*5A>G
NM_000342.3:c.*1369A>G NP_000333.1:n.*1369A>G
XM_005257593.3:c.*1369A>G XP_005257650.1:n.*1369A>G
XM_011525129.1:c.*1369A>G XP_011523431.1:n.*1369A>G
NM_000342.4:c.*1369A>G MANE Select NP_000333.1:n.*1369A>G
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