Canonical Allele Identifier: CA582253913
Gene: CA8 HGNC NCBI

Linked Data

dbSNP Id: rs1431158093
gnomAD v2: 8-61105115-G-C
gnomAD v3: 8-60192556-G-C
gnomAD v4: 8-60192556-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.60192556G>C , CM000670.2:g.60192556G>C GRCh38
NC_000008.10:g.61105115G>C , CM000670.1:g.61105115G>C GRCh37
NC_000008.9:g.61267669G>C NCBI36
NG_023193.1:g.93840C>G
NG_023193.2:g.93840C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000317995.5:c.*36-2571C>G MANE Select ENSP00000314407.4:n.*36-2571C>G
ENST00000317995.4:c.*36-2571C>G ENSP00000314407.4:n.*36-2571C>G
NM_004056.4:c.*36-2571C>G NP_004047.3:n.*36-2571C>G
XM_011517586.1:c.*36-2571C>G XP_011515888.1:n.*36-2571C>G
NM_001321839.1:c.*36-2571C>G NP_001308768.1:n.*36-2571C>G
NM_004056.5:c.*36-2571C>G NP_004047.3:n.*36-2571C>G
NR_135821.1:n.1235-2571C>G
XM_017013818.1:c.*36-2571C>G XP_016869307.1:n.*36-2571C>G
NM_004056.6:c.*36-2571C>G MANE Select NP_004047.3:n.*36-2571C>G
NM_001321839.2:c.*36-2571C>G NP_001308768.1:n.*36-2571C>G
NR_135821.2:n.1212-2571C>G