Canonical Allele Identifier: CA2626126711
Gene: CCDC88C HGNC NCBI

Linked Data

dbSNP Id: rs2140902644
gnomAD v4: 14-91272354-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91272354A>G , CM000676.2:g.91272354A>G GRCh38
NC_000014.8:g.91738698A>G , CM000676.1:g.91738698A>G GRCh37
NC_000014.7:g.90808451A>G NCBI36
NG_033118.1:g.150491T>C
NG_033118.2:g.150491T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.*271T>C MANE Select ENSP00000374507.6:n.*271T>C
ENST00000331194.8:c.*271T>C ENSP00000330332.8:n.*271T>C
ENST00000389857.10:c.*271T>C ENSP00000374507.6:n.*271T>C
ENST00000556726.5:c.2586T>C
NM_001080414.3:c.*271T>C NP_001073883.2:n.*271T>C
XM_011536796.1:c.*271T>C XP_011535098.1:n.*271T>C
XM_011536796.2:c.*271T>C XP_011535098.1:n.*271T>C
XM_017021336.1:c.*271T>C XP_016876825.1:n.*271T>C
NM_001080414.4:c.*271T>C MANE Select NP_001073883.2:n.*271T>C
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