Canonical Allele Identifier: CA4451418

Gene: CFTR

Linked Data

• ClinVar Variation Id: 574132
• ClinVar RCV Id: RCV000759038 ; RCV001079628
• dbSNP Id: rs201591901
• ExAC: 7:117251784 C / T
• gnomAD v2: 7-117251784-C-T
• gnomAD v3: 7-117611730-C-T
• gnomAD v4: 7-117611730-C-T
• COSMIC: COSM1200906
• MyVariant Identifiers: chr7:g.117251784C>T (hg19) ; chr7:g.117611730C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117611730C>T , CM000669.2:g.117611730C>T	GRCh38
NC_000007.13:g.117251784C>T , CM000669.1:g.117251784C>T	GRCh37
NC_000007.12:g.117039020C>T	NCBI36
NG_016465.4:g.150947C>T , LRG_663:g.150947C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3289C>T	ENSP00000497673.2:p.Arg1097Cys
ENST00000647978.2:c.*3003C>T	ENSP00000497658.1:n.*3003C>T
ENST00000649781.2:c.3106C>T	ENSP00000497203.1:p.Arg1036Cys
ENST00000685018.2:c.3289C>T	ENSP00000510194.2:p.Arg1097Cys
ENST00000687278.2:c.3289C>T	ENSP00000509593.2:p.Arg1097Cys
ENST00000699585.1:c.3289C>T	ENSP00000514456.1:p.Arg1097Cys
ENST00000699598.1:c.3289C>T	ENSP00000514467.1:p.Arg1097Cys
ENST00000699599.1:c.3289C>T	ENSP00000514468.1:p.Arg1097Cys
ENST00000699600.1:c.3289C>T	ENSP00000514469.1:p.Arg1097Cys
ENST00000699601.1:c.*1589C>T	ENSP00000514470.1:n.*1589C>T
ENST00000699602.1:c.3289C>T	ENSP00000514471.1:p.Arg1097Cys
ENST00000699604.1:c.*3113C>T	ENSP00000514472.1:n.*3113C>T
ENST00000699605.1:c.2863C>T	ENSP00000514473.1:p.Arg955Cys
ENST00000685018.1:c.37C>T	ENSP00000510194.1:p.Arg13Cys
ENST00000687278.1:c.880C>T	ENSP00000509593.1:p.Arg294Cys
ENST00000003084.11:c.3289C>T MANE Select	ENSP00000003084.6:p.Arg1097Cys
ENST00000647720.1:c.939C>T
ENST00000648260.1:c.2071C>T	ENSP00000497957.1:p.Arg691Cys
ENST00000649406.1:c.3106C>T	ENSP00000497965.1:p.Arg1036Cys
ENST00000649781.1:c.3106C>T	ENSP00000497203.1:p.Arg1036Cys
ENST00000003084.10:c.3289C>T	ENSP00000003084.6:p.Arg1097Cys
ENST00000426809.5:c.3199C>T	ENSP00000389119.1:p.Arg1067Cys
ENST00000468795.1:c.114C>T
NM_000492.3:c.3289C>T , LRG_663t1:c.3289C>T	NP_000483.3:p.Arg1097Cys
XM_011515751.1:c.3379C>T	XP_011514053.1:p.Arg1127Cys
XM_011515752.1:c.3379C>T	XP_011514054.1:p.Arg1127Cys
XM_011515753.1:c.3046C>T	XP_011514055.1:p.Arg1016Cys
XM_011515754.1:c.3046C>T	XP_011514056.1:p.Arg1016Cys
NM_000492.4:c.3289C>T MANE Select	NP_000483.3:p.Arg1097Cys