Canonical Allele Identifier: CA99476054
Gene: SLC4A4 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.71571453T>C
GRCh37 chr4:g.72437170T>C
gnomAD v3:
4:71571453 T / C
gnomAD v4:
chr4-71571453-T-C
Joint Max Group AF 0.000008 (AFR)
Genomes Max Group AF 0.000008 (AFR)
ClinVar RCV:
RCV001154731
ClinVar Variation:
905901
dbSNP:
1001169644
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.71571453T>C , CM000666.2:g.71571453T>C GRCh38
NC_000004.11:g.72437170T>C , CM000666.1:g.72437170T>C GRCh37
NC_000004.10:g.72656034T>C NCBI36
NG_012653.1:g.389168T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000698522.1:c.*3702T>C ENSP00000513771.1:n.*3702T>C
ENST00000264485.11:c.*3702T>C MANE Select ENSP00000264485.5:n.*3702T>C
ENST00000340595.4:c.*3702T>C MANE Plus Clinical ENSP00000344272.3:n.*3702T>C
ENST00000340595.3:c.*3702T>C ENSP00000344272.3:n.*3702T>C
ENST00000425175.5:c.*3560T>C ENSP00000393557.1:n.*3560T>C
NM_001098484.2:c.*3702T>C NP_001091954.1:n.*3702T>C
NM_001134742.1:c.*3560T>C NP_001128214.1:n.*3560T>C
NM_003759.3:c.*3702T>C NP_003750.1:n.*3702T>C
XM_011532390.1:c.*3702T>C XP_011530692.1:n.*3702T>C
NM_001098484.3:c.*3702T>C MANE Select NP_001091954.1:n.*3702T>C
NM_001134742.2:c.*3560T>C NP_001128214.1:n.*3560T>C
NM_003759.4:c.*3702T>C MANE Plus Clinical NP_003750.1:n.*3702T>C
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