Canonical Allele Identifier: CA457230283

Gene: CFTR

Linked Data

• ClinVar Variation Id: 2003202
• ClinVar RCV Id: RCV002833164
• dbSNP Id: rs1793340452
• gnomAD v4: 7-117664732-C-T
• MyVariant Identifiers: chr7:g.117304786C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664732C>T , CM000669.2:g.117664732C>T	GRCh38
NC_000007.13:g.117304786C>T , CM000669.1:g.117304786C>T	GRCh37
NC_000007.12:g.117092022C>T	NCBI36
NG_016465.4:g.203949C>T , LRG_663:g.203949C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*217C>T	ENSP00000497673.2:n.*217C>T
ENST00000647978.2:c.*3722C>T	ENSP00000497658.1:n.*3722C>T
ENST00000649781.2:c.3825C>T	ENSP00000497203.1:p.Asp1275=
ENST00000685018.2:c.*221C>T	ENSP00000510194.2:n.*221C>T
ENST00000687278.2:c.*661C>T	ENSP00000509593.2:n.*661C>T
ENST00000699585.1:c.*217C>T	ENSP00000514456.1:n.*217C>T
ENST00000699598.1:c.4008C>T	ENSP00000514467.1:p.Asp1336=
ENST00000699599.1:c.*221C>T	ENSP00000514468.1:n.*221C>T
ENST00000699600.1:c.*669C>T	ENSP00000514469.1:n.*669C>T
ENST00000699601.1:c.*2383C>T	ENSP00000514470.1:n.*2383C>T
ENST00000699602.1:c.4002C>T	ENSP00000514471.1:p.Asp1334=
ENST00000699604.1:c.*3832C>T	ENSP00000514472.1:n.*3832C>T
ENST00000699605.1:c.3582C>T	ENSP00000514473.1:p.Asp1194=
ENST00000699606.1:n.2176C>T
ENST00000685018.1:c.872C>T	ENSP00000510194.1:n.872C>T
ENST00000687278.1:c.1795C>T	ENSP00000509593.1:n.1795C>T
ENST00000689011.1:c.590C>T
ENST00000003084.11:c.4008C>T MANE Select	ENSP00000003084.6:p.Asp1336=
ENST00000647720.1:c.1458C>T
ENST00000649781.1:c.3825C>T	ENSP00000497203.1:p.Asp1275=
ENST00000003084.10:c.4008C>T	ENSP00000003084.6:p.Asp1336=
ENST00000426809.5:c.3918C>T	ENSP00000389119.1:p.Asp1306=
ENST00000600166.1:c.134C>T
NM_000492.3:c.4008C>T , LRG_663t1:c.4008C>T	NP_000483.3:p.Asp1336=
XM_011515751.1:c.4098C>T	XP_011514053.1:p.Asp1366=
XM_011515752.1:c.4098C>T	XP_011514054.1:p.Asp1366=
XM_011515753.1:c.3765C>T	XP_011514055.1:p.Asp1255=
XM_011515754.1:c.3765C>T	XP_011514056.1:p.Asp1255=
NM_000492.4:c.4008C>T MANE Select	NP_000483.3:p.Asp1336=