Canonical Allele Identifier: CA399777779
Gene: SLC4A1 HGNC NCBI

Linked Data

gnomAD v4: 17-44249161-C-G
MyVariant Identifiers: chr17:g.42326529C>G (hg19) chr17:g.44249161C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44249161C>G , CM000679.2:g.44249161C>G GRCh38
NC_000017.10:g.42326529C>G , CM000679.1:g.42326529C>G GRCh37
NC_000017.9:g.39682055C>G NCBI36
NG_007498.1:g.23974G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262418.12:c.*1297G>C MANE Select ENSP00000262418.6:n.*1297G>C
ENST00000262418.10:c.*1297G>C ENSP00000262418.6:n.*1297G>C
ENST00000399246.3:c.*1297G>C ENSP00000382190.3:n.*1297G>C
ENST00000631130.1:c.44G>C ENSP00000486787.1:p.Trp15Ser
NM_000342.3:c.*1297G>C NP_000333.1:n.*1297G>C
XM_005257593.3:c.*1297G>C XP_005257650.1:n.*1297G>C
XM_011525129.1:c.*1297G>C XP_011523431.1:n.*1297G>C
NM_000342.4:c.*1297G>C MANE Select NP_000333.1:n.*1297G>C
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