Canonical Allele Identifier: CA175614

Gene: CTF1

Linked Data

• ClinVar Variation Id: 163017
• ClinVar RCV Id: RCV000150375 ; RCV000537947 ; RCV000765288 ; RCV000852714
• dbSNP Id: rs727502949
• gnomAD v2: 16-30913529-C-A
• gnomAD v3: 16-30902208-C-A
• gnomAD v4: 16-30902208-C-A
• MyVariant Identifiers: chr16:g.30913529C>A (hg19) ; chr16:g.30902208C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30902208C>A , CM000678.2:g.30902208C>A	GRCh38
NC_000016.9:g.30913529C>A , CM000678.1:g.30913529C>A	GRCh37
NC_000016.8:g.30821030C>A	NCBI36
NG_009171.1:g.10602C>A , LRG_408:g.10602C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279804.3:c.275C>A MANE Select	ENSP00000279804.2:p.Ala92Glu
ENST00000279804.2:c.275C>A	ENSP00000279804.2:p.Ala92Glu
ENST00000395019.3:c.272C>A	ENSP00000378465.3:p.Ala91Glu
NM_001142544.1:c.272C>A	NP_001136016.1:p.Ala91Glu
NM_001330.3:c.275C>A , LRG_408t1:c.275C>A	NP_001321.1:p.Ala92Glu
XM_011545759.1:c.341C>A	XP_011544061.1:p.Ala114Glu
XM_011545760.1:c.299C>A	XP_011544062.1:p.Ala100Glu
XM_011545759.2:c.341C>A	XP_011544061.1:p.Ala114Glu
XM_011545760.2:c.299C>A	XP_011544062.1:p.Ala100Glu
NM_001142544.2:c.272C>A	NP_001136016.1:p.Ala91Glu
NM_001142544.3:c.272C>A	NP_001136016.1:p.Ala91Glu
NM_001330.5:c.275C>A MANE Select	NP_001321.1:p.Ala92Glu
NR_165660.1:n.413C>A