Canonical Allele Identifier: CA390610602

Gene: CCDC88C

Linked Data

• gnomAD v4: 14-91273478-A-C
• MyVariant Identifiers: chr14:g.91739822A>C (hg19) ; chr14:g.91273478A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273478A>C , CM000676.2:g.91273478A>C	GRCh38
NC_000014.8:g.91739822A>C , CM000676.1:g.91739822A>C	GRCh37
NC_000014.7:g.90809575A>C	NCBI36
NG_033118.1:g.149367T>G
NG_033118.2:g.149367T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5234T>G MANE Select	ENSP00000374507.6:p.Leu1745Arg
ENST00000331194.8:c.806T>G	ENSP00000330332.8:p.Leu269Arg
ENST00000334448.5:n.1046T>G
ENST00000389857.10:c.5234T>G	ENSP00000374507.6:p.Leu1745Arg
ENST00000556726.5:c.1462T>G
NM_001080414.3:c.5234T>G	NP_001073883.2:p.Leu1745Arg
XM_011536796.1:c.5126T>G	XP_011535098.1:p.Leu1709Arg
XR_429316.2:n.5509T>G
XM_011536796.2:c.5126T>G	XP_011535098.1:p.Leu1709Arg
XM_017021336.1:c.2315T>G	XP_016876825.1:p.Leu772Arg
XR_429316.4:n.5507T>G
NM_001080414.4:c.5234T>G MANE Select	NP_001073883.2:p.Leu1745Arg