Canonical Allele Identifier: CA10628139

Gene: CFTR

Linked Data

• ClinVar Variation Id: 358744
• ClinVar RCV Id: RCV000293347
• dbSNP Id: rs371815480
• gnomAD v2: 7-117308043-C-T
• gnomAD v3: 7-117667989-C-T
• gnomAD v4: 7-117667989-C-T
• MyVariant Identifiers: chr7:g.117308043C>T (hg19) ; chr7:g.117667989C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117667989C>T , CM000669.2:g.117667989C>T	GRCh38
NC_000007.13:g.117308043C>T , CM000669.1:g.117308043C>T	GRCh37
NC_000007.12:g.117095279C>T	NCBI36
NG_016465.4:g.207206C>T , LRG_663:g.207206C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*1533C>T	ENSP00000497673.2:n.*1533C>T
ENST00000647978.2:c.*5038C>T	ENSP00000497658.1:n.*5038C>T
ENST00000649781.2:c.*881C>T	ENSP00000497203.1:n.*881C>T
ENST00000685018.2:c.*1537C>T	ENSP00000510194.2:n.*1537C>T
ENST00000687278.2:c.*1051+232C>T	ENSP00000509593.2:n.*1051+232C>T
ENST00000699585.1:c.*1793C>T	ENSP00000514456.1:n.*1793C>T
ENST00000699598.1:c.*454+232C>T	ENSP00000514467.1:n.*454+232C>T
ENST00000699599.1:c.*961+232C>T	ENSP00000514468.1:n.*961+232C>T
ENST00000699600.1:c.*1059+232C>T	ENSP00000514469.1:n.*1059+232C>T
ENST00000699601.1:c.*3699C>T	ENSP00000514470.1:n.*3699C>T
ENST00000699602.1:c.*881C>T	ENSP00000514471.1:n.*881C>T
ENST00000699604.1:c.*5148C>T	ENSP00000514472.1:n.*5148C>T
ENST00000699605.1:c.*881C>T	ENSP00000514473.1:n.*881C>T
ENST00000699606.1:n.4835C>T
ENST00000685018.1:c.2188C>T	ENSP00000510194.1:n.2188C>T
ENST00000687278.1:c.2185+232C>T	ENSP00000509593.1:n.2185+232C>T
ENST00000689011.1:c.2166C>T
ENST00000003084.11:c.*881C>T MANE Select	ENSP00000003084.6:n.*881C>T
ENST00000647720.1:c.2774C>T
ENST00000003084.10:c.*881C>T	ENSP00000003084.6:n.*881C>T
ENST00000600166.1:c.368+2425C>T
NM_000492.3:c.*881C>T , LRG_663t1:c.*881C>T	NP_000483.3:n.*881C>T
XM_011515751.1:c.*881C>T	XP_011514053.1:n.*881C>T
XM_011515753.1:c.*881C>T	XP_011514055.1:n.*881C>T
XM_011515754.1:c.*881C>T	XP_011514056.1:n.*881C>T
NM_000492.4:c.*881C>T MANE Select	NP_000483.3:n.*881C>T