Canonical Allele Identifier: CA390610921

Gene: CCDC88C

Linked Data

• MyVariant Identifiers: chr14:g.91739976C>G (hg19) ; chr14:g.91273632C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273632C>G , CM000676.2:g.91273632C>G	GRCh38
NC_000014.8:g.91739976C>G , CM000676.1:g.91739976C>G	GRCh37
NC_000014.7:g.90809729C>G	NCBI36
NG_033118.1:g.149213G>C
NG_033118.2:g.149213G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000389857.11:c.5080G>C MANE Select	ENSP00000374507.6:p.Asp1694His
ENST00000331194.8:c.652G>C	ENSP00000330332.8:p.Asp218His
ENST00000334448.5:n.892G>C
ENST00000389857.10:c.5080G>C	ENSP00000374507.6:p.Asp1694His
ENST00000556726.5:c.1308G>C
NM_001080414.3:c.5080G>C	NP_001073883.2:p.Asp1694His
XM_011536796.1:c.4972G>C	XP_011535098.1:p.Asp1658His
XR_429316.2:n.5355G>C
XM_011536796.2:c.4972G>C	XP_011535098.1:p.Asp1658His
XM_017021336.1:c.2161G>C	XP_016876825.1:p.Asp721His
XR_429316.4:n.5353G>C
NM_001080414.4:c.5080G>C MANE Select	NP_001073883.2:p.Asp1694His