Canonical Allele Identifier: CA150155246

Gene: CCDC170

Linked Data

• dbSNP Id: rs1041171512
• gnomAD v2: 6-151936556-C-T
• gnomAD v3: 6-151615421-C-T
• gnomAD v4: 6-151615421-C-T
• MyVariant Identifiers: chr6:g.151936556C>T (hg19) ; chr6:g.151615421C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.151615421C>T , CM000668.2:g.151615421C>T	GRCh38
NC_000006.11:g.151936556C>T , CM000668.1:g.151936556C>T	GRCh37
NC_000006.10:g.151978249C>T	NCBI36
NG_021198.1:g.126382C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239374.8:c.1711-22C>T MANE Select	ENSP00000239374.6:n.1711-22C>T
ENST00000239374.7:c.1711-22C>T	ENSP00000239374.6:n.1711-22C>T
ENST00000537358.1:n.497-22C>T
NM_025059.3:c.1711-22C>T	NP_079335.2:n.1711-22C>T
XM_011536147.1:c.1729-22C>T	XP_011534449.1:n.1729-22C>T
XM_011536148.1:c.1528-22C>T	XP_011534450.1:n.1528-22C>T
XM_011536147.2:c.1729-22C>T	XP_011534449.1:n.1729-22C>T
XM_011536148.2:c.1528-22C>T	XP_011534450.1:n.1528-22C>T
XR_001743865.1:n.129+1300G>A
NM_025059.4:c.1711-22C>T MANE Select	NP_079335.2:n.1711-22C>T