Canonical Allele Identifier: CA328118

Gene: CFTR

Linked Data

• ClinVar Variation Id: 38833
• ClinVar RCV Id: RCV000056385 ; RCV001529907 ; RCV001831622
• dbSNP Id: rs79660178
• MyVariant Identifiers: chr7:g.117171045T>A (hg19) ; chr7:g.117530991T>A (hg38)
• PubMed: PMID:23974870

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117530991T>A , CM000669.2:g.117530991T>A	GRCh38
NC_000007.13:g.117171045T>A , CM000669.1:g.117171045T>A	GRCh37
NC_000007.12:g.116958281T>A	NCBI36
NG_016465.4:g.70208T>A , LRG_663:g.70208T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.366T>A	ENSP00000497673.2:p.Tyr122Ter
ENST00000647978.2:c.*263T>A	ENSP00000497658.1:n.*263T>A
ENST00000649781.2:c.366T>A	ENSP00000497203.1:p.Tyr122Ter
ENST00000685018.2:c.366T>A	ENSP00000510194.2:p.Tyr122Ter
ENST00000687278.2:c.366T>A	ENSP00000509593.2:p.Tyr122Ter
ENST00000699585.1:c.366T>A	ENSP00000514456.1:p.Tyr122Ter
ENST00000699596.1:c.366T>A	ENSP00000514465.1:p.Tyr122Ter
ENST00000699597.1:c.366T>A	ENSP00000514466.1:p.Tyr122Ter
ENST00000699598.1:c.366T>A	ENSP00000514467.1:p.Tyr122Ter
ENST00000699599.1:c.366T>A	ENSP00000514468.1:p.Tyr122Ter
ENST00000699600.1:c.366T>A	ENSP00000514469.1:p.Tyr122Ter
ENST00000699601.1:c.366T>A	ENSP00000514470.1:p.Tyr122Ter
ENST00000699602.1:c.366T>A	ENSP00000514471.1:p.Tyr122Ter
ENST00000699604.1:c.*190T>A	ENSP00000514472.1:n.*190T>A
ENST00000699605.1:c.123T>A	ENSP00000514473.1:p.Tyr41Ter
ENST00000003084.11:c.366T>A MANE Select	ENSP00000003084.6:p.Tyr122Ter
ENST00000647978.1:c.*263T>A	ENSP00000497658.1:n.*263T>A
ENST00000648260.1:c.366T>A	ENSP00000497957.1:p.Tyr122Ter
ENST00000649406.1:c.366T>A	ENSP00000497965.1:p.Tyr122Ter
ENST00000649781.1:c.366T>A	ENSP00000497203.1:p.Tyr122Ter
ENST00000673785.1:c.123T>A	ENSP00000501235.1:p.Tyr41Ter
ENST00000003084.10:c.366T>A	ENSP00000003084.6:p.Tyr122Ter
ENST00000426809.5:c.366T>A	ENSP00000389119.1:p.Tyr122Ter
NM_000492.3:c.366T>A , LRG_663t1:c.366T>A	NP_000483.3:p.Tyr122Ter
XM_011515751.1:c.456T>A	XP_011514053.1:p.Tyr152Ter
XM_011515752.1:c.456T>A	XP_011514054.1:p.Tyr152Ter
XM_011515753.1:c.123T>A	XP_011514055.1:p.Tyr41Ter
XM_011515754.1:c.123T>A	XP_011514056.1:p.Tyr41Ter
NM_000492.4:c.366T>A MANE Select	NP_000483.3:p.Tyr122Ter