Canonical Allele Identifier: CA487549201

Gene: CCDC88C

Linked Data

• gnomAD v4: 14-91305924-A-G
• MyVariant Identifiers: chr14:g.91772268A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91305924A>G , CM000676.2:g.91305924A>G	GRCh38
NC_000014.8:g.91772268A>G , CM000676.1:g.91772268A>G	GRCh37
NC_000014.7:g.90842021A>G	NCBI36
NG_033118.1:g.116921T>C
NG_033118.2:g.116921T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.3198T>C MANE Select	ENSP00000374507.6:p.Asn1066=
ENST00000389857.10:c.3198T>C	ENSP00000374507.6:p.Asn1066=
NM_001080414.3:c.3198T>C	NP_001073883.2:p.Asn1066=
XM_005267691.3:c.3198T>C	XP_005267748.1:p.Asn1066=
XM_011536796.1:c.3090T>C	XP_011535098.1:p.Asn1030=
XR_429316.2:n.3326T>C
XR_943459.1:n.3326T>C
XM_005267691.5:c.3198T>C	XP_005267748.1:p.Asn1066=
XM_011536796.2:c.3090T>C	XP_011535098.1:p.Asn1030=
XM_017021335.2:c.3198T>C	XP_016876824.1:p.Asn1066=
XM_017021336.1:c.279T>C	XP_016876825.1:p.Asn93=
XR_429316.4:n.3324T>C
NM_001080414.4:c.3198T>C MANE Select	NP_001073883.2:p.Asn1066=