Canonical Allele Identifier: CA457448806

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1616742
• ClinVar RCV Id: RCV002076088
• dbSNP Id: rs1277496713
• gnomAD v2: 7-117231991-T-C
• gnomAD v3: 7-117591937-T-C
• gnomAD v4: 7-117591937-T-C
• MyVariant Identifiers: chr7:g.117231991T>C (hg19) ; chr7:g.117591937T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117591937T>C , CM000669.2:g.117591937T>C	GRCh38
NC_000007.13:g.117231991T>C , CM000669.1:g.117231991T>C	GRCh37
NC_000007.12:g.117019227T>C	NCBI36
NG_016465.4:g.131154T>C , LRG_663:g.131154T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1770T>C	ENSP00000497673.2:p.Cys590=
ENST00000647978.2:c.*1484T>C	ENSP00000497658.1:n.*1484T>C
ENST00000649781.2:c.1587T>C	ENSP00000497203.1:p.Cys529=
ENST00000685018.2:c.1770T>C	ENSP00000510194.2:p.Cys590=
ENST00000687278.2:c.1770T>C	ENSP00000509593.2:p.Cys590=
ENST00000699585.1:c.1770T>C	ENSP00000514456.1:p.Cys590=
ENST00000699598.1:c.1770T>C	ENSP00000514467.1:p.Cys590=
ENST00000699599.1:c.1770T>C	ENSP00000514468.1:p.Cys590=
ENST00000699600.1:c.1770T>C	ENSP00000514469.1:p.Cys590=
ENST00000699601.1:c.*70T>C	ENSP00000514470.1:n.*70T>C
ENST00000699602.1:c.1770T>C	ENSP00000514471.1:p.Cys590=
ENST00000699604.1:c.*1594T>C	ENSP00000514472.1:n.*1594T>C
ENST00000699605.1:c.1344T>C	ENSP00000514473.1:p.Cys448=
ENST00000003084.11:c.1770T>C MANE Select	ENSP00000003084.6:p.Cys590=
ENST00000647978.1:c.*1484T>C	ENSP00000497658.1:n.*1484T>C
ENST00000648260.1:c.1402-10889T>C	ENSP00000497957.1:n.1402-10889T>C
ENST00000649406.1:c.1587T>C	ENSP00000497965.1:p.Cys529=
ENST00000649781.1:c.1587T>C	ENSP00000497203.1:p.Cys529=
ENST00000003084.10:c.1770T>C	ENSP00000003084.6:p.Cys590=
ENST00000426809.5:c.1680T>C	ENSP00000389119.1:p.Cys560=
NM_000492.3:c.1770T>C , LRG_663t1:c.1770T>C	NP_000483.3:p.Cys590=
XM_011515751.1:c.1860T>C	XP_011514053.1:p.Cys620=
XM_011515752.1:c.1860T>C	XP_011514054.1:p.Cys620=
XM_011515753.1:c.1527T>C	XP_011514055.1:p.Cys509=
XM_011515754.1:c.1527T>C	XP_011514056.1:p.Cys509=
NM_000492.4:c.1770T>C MANE Select	NP_000483.3:p.Cys590=