Canonical Allele Identifier: CA487540710

Gene: CCDC88C

Linked Data

• gnomAD v4: 14-91279245-G-A
• MyVariant Identifiers: chr14:g.91745589G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91279245G>A , CM000676.2:g.91279245G>A	GRCh38
NC_000014.8:g.91745589G>A , CM000676.1:g.91745589G>A	GRCh37
NC_000014.7:g.90815342G>A	NCBI36
NG_033118.1:g.143600C>T
NG_033118.2:g.143600C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.4761C>T MANE Select	ENSP00000374507.6:p.Asn1587=
ENST00000331194.8:c.333C>T	ENSP00000330332.8:p.Asn111=
ENST00000334448.5:n.573C>T
ENST00000389857.10:c.4761C>T	ENSP00000374507.6:p.Asn1587=
ENST00000556726.5:c.989C>T
ENST00000557455.1:n.733C>T
NM_001080414.3:c.4761C>T	NP_001073883.2:p.Asn1587=
XM_011536796.1:c.4653C>T	XP_011535098.1:p.Asn1551=
XR_429316.2:n.5036C>T
XM_011536796.2:c.4653C>T	XP_011535098.1:p.Asn1551=
XM_017021336.1:c.1842C>T	XP_016876825.1:p.Asn614=
XR_429316.4:n.5034C>T
NM_001080414.4:c.4761C>T MANE Select	NP_001073883.2:p.Asn1587=