Canonical Allele Identifier: CA6726683

Gene: CCDC38 SNRPF

Linked Data

• dbSNP Id: rs761615442
• ExAC: 12:96288862 T / C
• gnomAD v2: 12-96288862-T-C
• gnomAD v3: 12-95895084-T-C
• gnomAD v4: 12-95895084-T-C
• MyVariant Identifiers: chr12:g.96288862T>C (hg19) ; chr12:g.95895084T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95895084T>C , CM000674.2:g.95895084T>C	GRCh38
NC_000012.11:g.96288862T>C , CM000674.1:g.96288862T>C	GRCh37
NC_000012.10:g.94812993T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000344280.8:c.677A>G (CCDC38) MANE Select	ENSP00000345470.3:p.Gln226Arg
ENST00000344280.7:c.677A>G (CCDC38)	ENSP00000345470.3:p.Gln226Arg
ENST00000552085.1:c.286+5903T>C (SNRPF)	ENSP00000447127.1:n.286+5903T>C
NM_182496.2:c.677A>G (CCDC38)	NP_872302.2:p.Gln226Arg
XM_006719229.1:c.185A>G (CCDC38)	XP_006719292.1:p.Gln62Arg
XM_011537883.1:c.677A>G (CCDC38)	XP_011536185.1:p.Gln226Arg
XM_011537884.1:c.557A>G (CCDC38)	XP_011536186.1:p.Gln186Arg
XM_011537885.1:c.557A>G (CCDC38)	XP_011536187.1:p.Gln186Arg
XM_011537886.1:c.557A>G (CCDC38)	XP_011536188.1:p.Gln186Arg
XM_011537887.1:c.557A>G (CCDC38)	XP_011536189.1:p.Gln186Arg
XM_011537888.1:c.26A>G (CCDC38)	XP_011536190.1:p.Gln9Arg
XM_011537889.1:c.677A>G (CCDC38)	XP_011536191.1:p.Gln226Arg
XR_429080.1:n.909A>G (CCDC38)
XM_006719229.2:c.185A>G (CCDC38)	XP_006719292.1:p.Gln62Arg
XM_011537883.2:c.677A>G (CCDC38)	XP_011536185.1:p.Gln226Arg
XM_011537884.2:c.557A>G (CCDC38)	XP_011536186.1:p.Gln186Arg
XM_011537886.2:c.557A>G (CCDC38)	XP_011536188.1:p.Gln186Arg
XM_011537887.2:c.557A>G (CCDC38)	XP_011536189.1:p.Gln186Arg
XM_011537888.3:c.26A>G (CCDC38)	XP_011536190.1:p.Gln9Arg
NM_182496.3:c.677A>G (CCDC38) MANE Select	NP_872302.2:p.Gln226Arg