Canonical Allele Identifier: CA616112274

Gene: CCDC88C

Linked Data

• dbSNP Id: rs1220854648
• gnomAD v2: 14-91738772-G-A
• gnomAD v3: 14-91272428-G-A
• gnomAD v4: 14-91272428-G-A
• MyVariant Identifiers: chr14:g.91738772G>A (hg19) ; chr14:g.91272428G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91272428G>A , CM000676.2:g.91272428G>A	GRCh38
NC_000014.8:g.91738772G>A , CM000676.1:g.91738772G>A	GRCh37
NC_000014.7:g.90808525G>A	NCBI36
NG_033118.1:g.150417C>T
NG_033118.2:g.150417C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.*197C>T MANE Select	ENSP00000374507.6:n.*197C>T
ENST00000331194.8:c.*197C>T	ENSP00000330332.8:n.*197C>T
ENST00000389857.10:c.*197C>T	ENSP00000374507.6:n.*197C>T
ENST00000556726.5:c.2512C>T
NM_001080414.3:c.*197C>T	NP_001073883.2:n.*197C>T
XM_011536796.1:c.*197C>T	XP_011535098.1:n.*197C>T
XM_011536796.2:c.*197C>T	XP_011535098.1:n.*197C>T
XM_017021336.1:c.*197C>T	XP_016876825.1:n.*197C>T
NM_001080414.4:c.*197C>T MANE Select	NP_001073883.2:n.*197C>T