Canonical Allele Identifier: CA487829346

Gene: CCDC88C

Linked Data

• ClinVar Variation Id: 2764032
• ClinVar RCV Id: RCV003565377
• dbSNP Id: rs1889834822
• MyVariant Identifiers: chr14:g.91739905G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273561G>A , CM000676.2:g.91273561G>A	GRCh38
NC_000014.8:g.91739905G>A , CM000676.1:g.91739905G>A	GRCh37
NC_000014.7:g.90809658G>A	NCBI36
NG_033118.1:g.149284C>T
NG_033118.2:g.149284C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5151C>T MANE Select	ENSP00000374507.6:p.Ala1717=
ENST00000331194.8:c.723C>T	ENSP00000330332.8:p.Ala241=
ENST00000334448.5:n.963C>T
ENST00000389857.10:c.5151C>T	ENSP00000374507.6:p.Ala1717=
ENST00000556726.5:c.1379C>T
NM_001080414.3:c.5151C>T	NP_001073883.2:p.Ala1717=
XM_011536796.1:c.5043C>T	XP_011535098.1:p.Ala1681=
XR_429316.2:n.5426C>T
XM_011536796.2:c.5043C>T	XP_011535098.1:p.Ala1681=
XM_017021336.1:c.2232C>T	XP_016876825.1:p.Ala744=
XR_429316.4:n.5424C>T
NM_001080414.4:c.5151C>T MANE Select	NP_001073883.2:p.Ala1717=