Canonical Allele Identifier: CA12546346

Gene: CFTR

Linked Data

• ClinVar Variation Id: 818092
• ClinVar RCV Id: RCV001009337 ; RCV001712848
• dbSNP Id: rs213981
• gnomAD v2: 7-117254527-A-C
• gnomAD v3: 7-117614473-A-C
• gnomAD v4: 7-117614473-A-C
• MyVariant Identifiers: chr7:g.117254527A>C (hg19) ; chr7:g.117614473A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117614473A>C , CM000669.2:g.117614473A>C	GRCh38
NC_000007.13:g.117254527A>C , CM000669.1:g.117254527A>C	GRCh37
NC_000007.12:g.117041763A>C	NCBI36
NG_016465.4:g.153690A>C , LRG_663:g.153690A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3368-140A>C	ENSP00000497673.2:n.3368-140A>C
ENST00000647978.2:c.*3082-140A>C	ENSP00000497658.1:n.*3082-140A>C
ENST00000649781.2:c.3185-140A>C	ENSP00000497203.1:n.3185-140A>C
ENST00000685018.2:c.3368-140A>C	ENSP00000510194.2:n.3368-140A>C
ENST00000687278.2:c.3368-140A>C	ENSP00000509593.2:n.3368-140A>C
ENST00000699585.1:c.3368-140A>C	ENSP00000514456.1:n.3368-140A>C
ENST00000699598.1:c.3368-140A>C	ENSP00000514467.1:n.3368-140A>C
ENST00000699599.1:c.3368-140A>C	ENSP00000514468.1:n.3368-140A>C
ENST00000699600.1:c.3368-140A>C	ENSP00000514469.1:n.3368-140A>C
ENST00000699601.1:c.*1668-65A>C	ENSP00000514470.1:n.*1668-65A>C
ENST00000699602.1:c.3368-146A>C	ENSP00000514471.1:n.3368-146A>C
ENST00000699604.1:c.*3192-140A>C	ENSP00000514472.1:n.*3192-140A>C
ENST00000699605.1:c.2942-140A>C	ENSP00000514473.1:n.2942-140A>C
ENST00000685018.1:c.116-140A>C	ENSP00000510194.1:n.116-140A>C
ENST00000687278.1:c.959-140A>C	ENSP00000509593.1:n.959-140A>C
ENST00000003084.11:c.3368-140A>C MANE Select	ENSP00000003084.6:n.3368-140A>C
ENST00000647720.1:c.1018-140A>C
ENST00000648260.1:c.2150-140A>C	ENSP00000497957.1:n.2150-140A>C
ENST00000649406.1:c.3185-140A>C	ENSP00000497965.1:n.3185-140A>C
ENST00000649781.1:c.3185-140A>C	ENSP00000497203.1:n.3185-140A>C
ENST00000003084.10:c.3368-140A>C	ENSP00000003084.6:n.3368-140A>C
ENST00000426809.5:c.3278-140A>C	ENSP00000389119.1:n.3278-140A>C
ENST00000468795.1:c.193-140A>C
NM_000492.3:c.3368-140A>C , LRG_663t1:c.3368-140A>C	NP_000483.3:n.3368-140A>C
XM_011515751.1:c.3458-140A>C	XP_011514053.1:n.3458-140A>C
XM_011515752.1:c.3458-140A>C	XP_011514054.1:n.3458-140A>C
XM_011515753.1:c.3125-140A>C	XP_011514055.1:n.3125-140A>C
XM_011515754.1:c.3125-140A>C	XP_011514056.1:n.3125-140A>C
NM_000492.4:c.3368-140A>C MANE Select	NP_000483.3:n.3368-140A>C