Canonical Allele Identifier: CA577680852

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1736540
• ClinVar RCV Id: RCV002357696
• dbSNP Id: rs1266011865
• gnomAD v2: 7-117304732-C-T
• gnomAD v4: 7-117664678-C-T
• MyVariant Identifiers: chr7:g.117304732C>T (hg19) ; chr7:g.117664678C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664678C>T , CM000669.2:g.117664678C>T	GRCh38
NC_000007.13:g.117304732C>T , CM000669.1:g.117304732C>T	GRCh37
NC_000007.12:g.117091968C>T	NCBI36
NG_016465.4:g.203895C>T , LRG_663:g.203895C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*173-10C>T	ENSP00000497673.2:n.*173-10C>T
ENST00000647978.2:c.*3678-10C>T	ENSP00000497658.1:n.*3678-10C>T
ENST00000649781.2:c.3781-10C>T	ENSP00000497203.1:n.3781-10C>T
ENST00000685018.2:c.*177-10C>T	ENSP00000510194.2:n.*177-10C>T
ENST00000687278.2:c.*617-10C>T	ENSP00000509593.2:n.*617-10C>T
ENST00000699585.1:c.*173-10C>T	ENSP00000514456.1:n.*173-10C>T
ENST00000699598.1:c.3964-10C>T	ENSP00000514467.1:n.3964-10C>T
ENST00000699599.1:c.*177-10C>T	ENSP00000514468.1:n.*177-10C>T
ENST00000699600.1:c.*625-10C>T	ENSP00000514469.1:n.*625-10C>T
ENST00000699601.1:c.*2339-10C>T	ENSP00000514470.1:n.*2339-10C>T
ENST00000699602.1:c.3958-10C>T	ENSP00000514471.1:n.3958-10C>T
ENST00000699604.1:c.*3788-10C>T	ENSP00000514472.1:n.*3788-10C>T
ENST00000699605.1:c.3538-10C>T	ENSP00000514473.1:n.3538-10C>T
ENST00000699606.1:n.2132-10C>T
ENST00000685018.1:c.828-10C>T	ENSP00000510194.1:n.828-10C>T
ENST00000687278.1:c.1751-10C>T	ENSP00000509593.1:n.1751-10C>T
ENST00000689011.1:c.546-10C>T
ENST00000003084.11:c.3964-10C>T MANE Select	ENSP00000003084.6:n.3964-10C>T
ENST00000647720.1:c.1414-10C>T
ENST00000649781.1:c.3781-10C>T	ENSP00000497203.1:n.3781-10C>T
ENST00000003084.10:c.3964-10C>T	ENSP00000003084.6:n.3964-10C>T
ENST00000426809.5:c.3874-10C>T	ENSP00000389119.1:n.3874-10C>T
ENST00000600166.1:c.90-10C>T
NM_000492.3:c.3964-10C>T , LRG_663t1:c.3964-10C>T	NP_000483.3:n.3964-10C>T
XM_011515751.1:c.4054-10C>T	XP_011514053.1:n.4054-10C>T
XM_011515752.1:c.4054-10C>T	XP_011514054.1:n.4054-10C>T
XM_011515753.1:c.3721-10C>T	XP_011514055.1:n.3721-10C>T
XM_011515754.1:c.3721-10C>T	XP_011514056.1:n.3721-10C>T
NM_000492.4:c.3964-10C>T MANE Select	NP_000483.3:n.3964-10C>T