Canonical Allele Identifier: CA7308503

Gene: CCDC88C

Linked Data

• dbSNP Id: rs200163595
• ExAC: 14:91738949 C / A
• gnomAD v2: 14-91738949-C-A
• gnomAD v4: 14-91272605-C-A
• MyVariant Identifiers: chr14:g.91738949C>A (hg19) ; chr14:g.91272605C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91272605C>A , CM000676.2:g.91272605C>A	GRCh38
NC_000014.8:g.91738949C>A , CM000676.1:g.91738949C>A	GRCh37
NC_000014.7:g.90808702C>A	NCBI36
NG_033118.1:g.150240G>T
NG_033118.2:g.150240G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.*20G>T MANE Select	ENSP00000374507.6:n.*20G>T
ENST00000331194.8:c.*20G>T	ENSP00000330332.8:n.*20G>T
ENST00000389857.10:c.*20G>T	ENSP00000374507.6:n.*20G>T
ENST00000556726.5:c.2335G>T
NM_001080414.3:c.*20G>T	NP_001073883.2:n.*20G>T
XM_011536796.1:c.*20G>T	XP_011535098.1:n.*20G>T
XM_011536796.2:c.*20G>T	XP_011535098.1:n.*20G>T
XM_017021336.1:c.*20G>T	XP_016876825.1:n.*20G>T
NM_001080414.4:c.*20G>T MANE Select	NP_001073883.2:n.*20G>T