Canonical Allele Identifier: CA265525440

Gene: CCDC88C

Linked Data

• dbSNP Id: rs545112562
• gnomAD v3: 14-91279441-C-A
• gnomAD v4: 14-91279441-C-A
• MyVariant Identifiers: chr14:g.91745785C>A (hg19) ; chr14:g.91279441C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91279441C>A , CM000676.2:g.91279441C>A	GRCh38
NC_000014.8:g.91745785C>A , CM000676.1:g.91745785C>A	GRCh37
NC_000014.7:g.90815538C>A	NCBI36
NG_033118.1:g.143404G>T
NG_033118.2:g.143404G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.4700-135G>T MANE Select	ENSP00000374507.6:n.4700-135G>T
ENST00000331194.8:c.272-135G>T	ENSP00000330332.8:n.272-135G>T
ENST00000334448.5:n.512-135G>T
ENST00000389857.10:c.4700-135G>T	ENSP00000374507.6:n.4700-135G>T
ENST00000556726.5:c.928-135G>T
ENST00000557455.1:n.537G>T
NM_001080414.3:c.4700-135G>T	NP_001073883.2:n.4700-135G>T
XM_011536796.1:c.4592-135G>T	XP_011535098.1:n.4592-135G>T
XR_429316.2:n.4975-135G>T
XR_943459.1:n.5448G>T
XM_011536796.2:c.4592-135G>T	XP_011535098.1:n.4592-135G>T
XM_017021335.2:c.*439G>T	XP_016876824.1:n.*439G>T
XM_017021336.1:c.1781-135G>T	XP_016876825.1:n.1781-135G>T
XR_429316.4:n.4973-135G>T
NM_001080414.4:c.4700-135G>T MANE Select	NP_001073883.2:n.4700-135G>T