Canonical Allele Identifier: CA7308551

Gene: CCDC88C

Linked Data

• dbSNP Id: rs3814839
• ExAC: 14:91739102 G / A
• gnomAD v2: 14-91739102-G-A
• gnomAD v3: 14-91272758-G-A
• gnomAD v4: 14-91272758-G-A
• MyVariant Identifiers: chr14:g.91739102G>A (hg19) ; chr14:g.91272758G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91272758G>A , CM000676.2:g.91272758G>A	GRCh38
NC_000014.8:g.91739102G>A , CM000676.1:g.91739102G>A	GRCh37
NC_000014.7:g.90808855G>A	NCBI36
NG_033118.1:g.150087C>T
NG_033118.2:g.150087C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5954C>T MANE Select	ENSP00000374507.6:p.Ser1985Phe
ENST00000331194.8:c.1388C>T	ENSP00000330332.8:p.Ser463Phe
ENST00000389857.10:c.5954C>T	ENSP00000374507.6:p.Ser1985Phe
ENST00000556726.5:c.2182C>T
NM_001080414.3:c.5954C>T	NP_001073883.2:p.Ser1985Phe
XM_011536796.1:c.5846C>T	XP_011535098.1:p.Ser1949Phe
XM_011536796.2:c.5846C>T	XP_011535098.1:p.Ser1949Phe
XM_017021336.1:c.3035C>T	XP_016876825.1:p.Ser1012Phe
NM_001080414.4:c.5954C>T MANE Select	NP_001073883.2:p.Ser1985Phe