Canonical Allele Identifier: CA571437271

Gene: CCDC170

Linked Data

• dbSNP Id: rs1275824856
• gnomAD v2: 6-151936863-A-G
• gnomAD v3: 6-151615728-A-G
• gnomAD v4: 6-151615728-A-G
• MyVariant Identifiers: chr6:g.151936863A>G (hg19) ; chr6:g.151615728A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.151615728A>G , CM000668.2:g.151615728A>G	GRCh38
NC_000006.11:g.151936863A>G , CM000668.1:g.151936863A>G	GRCh37
NC_000006.10:g.151978556A>G	NCBI36
NG_021198.1:g.126689A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239374.8:c.1947+49A>G MANE Select	ENSP00000239374.6:n.1947+49A>G
ENST00000239374.7:c.1947+49A>G	ENSP00000239374.6:n.1947+49A>G
NM_025059.3:c.1947+49A>G	NP_079335.2:n.1947+49A>G
XM_011536147.1:c.1965+49A>G	XP_011534449.1:n.1965+49A>G
XM_011536148.1:c.1764+49A>G	XP_011534450.1:n.1764+49A>G
XM_011536147.2:c.1965+49A>G	XP_011534449.1:n.1965+49A>G
XM_011536148.2:c.1764+49A>G	XP_011534450.1:n.1764+49A>G
XR_001743865.1:n.129+993T>C
NM_025059.4:c.1947+49A>G MANE Select	NP_079335.2:n.1947+49A>G