Canonical Allele Identifier: CA1114400297
Gene: CA8 HGNC NCBI

Linked Data

dbSNP Id: rs1804429021
gnomAD v3: 8-60281422-T-G
gnomAD v4: 8-60281422-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.60281422T>G , CM000670.2:g.60281422T>G GRCh38
NC_000008.10:g.61193981T>G , CM000670.1:g.61193981T>G GRCh37
NC_000008.9:g.61356535T>G NCBI36
NG_023193.1:g.4974A>C
NG_023193.2:g.4974A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001321837.1:c.-275A>C NP_001308766.1:n.-275A>C
NM_001321838.1:c.-275A>C NP_001308767.1:n.-275A>C
NM_001321839.1:c.-275A>C NP_001308768.1:n.-275A>C
NM_004056.5:c.-275A>C NP_004047.3:n.-275A>C
NR_135821.1:n.2A>C
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