Canonical Allele Identifier: CA4450698

Gene: CFTR

Linked Data

• ClinVar Variation Id: 237855
• ClinVar RCV Id: RCV000248062 ; RCV000231663 ; RCV000590190 ; RCV001161754 ; RCV002257533
• dbSNP Id: rs371315549
• ExAC: 7:117170947 T / C
• gnomAD v2: 7-117170947-T-C
• gnomAD v3: 7-117530893-T-C
• gnomAD v4: 7-117530893-T-C
• MyVariant Identifiers: chr7:g.117170947T>C (hg19) ; chr7:g.117530893T>C (hg38)
• PubMed: PMID:7691344 ; PMID:10571949 ; PMID:10601093 ; PMID:10746558 ; PMID:11938439 ; PMID:15758663 ; PMID:15858154 ; PMID:16141195 ; PMID:17020467 ; PMID:20717170 ; PMID:21198395 ; PMID:21499205 ; PMID:21520337 ; PMID:23381846 ; PMID:25087612

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117530893T>C , CM000669.2:g.117530893T>C	GRCh38
NC_000007.13:g.117170947T>C , CM000669.1:g.117170947T>C	GRCh37
NC_000007.12:g.116958183T>C	NCBI36
NG_016465.4:g.70110T>C , LRG_663:g.70110T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.274-6T>C	ENSP00000497673.2:n.274-6T>C
ENST00000647978.2:c.*171-6T>C	ENSP00000497658.1:n.*171-6T>C
ENST00000649781.2:c.274-6T>C	ENSP00000497203.1:n.274-6T>C
ENST00000685018.2:c.274-6T>C	ENSP00000510194.2:n.274-6T>C
ENST00000687278.2:c.274-6T>C	ENSP00000509593.2:n.274-6T>C
ENST00000699585.1:c.274-6T>C	ENSP00000514456.1:n.274-6T>C
ENST00000699596.1:c.274-6T>C	ENSP00000514465.1:n.274-6T>C
ENST00000699597.1:c.274-6T>C	ENSP00000514466.1:n.274-6T>C
ENST00000699598.1:c.274-6T>C	ENSP00000514467.1:n.274-6T>C
ENST00000699599.1:c.274-6T>C	ENSP00000514468.1:n.274-6T>C
ENST00000699600.1:c.274-6T>C	ENSP00000514469.1:n.274-6T>C
ENST00000699601.1:c.274-6T>C	ENSP00000514470.1:n.274-6T>C
ENST00000699602.1:c.274-6T>C	ENSP00000514471.1:n.274-6T>C
ENST00000699604.1:c.*98-6T>C	ENSP00000514472.1:n.*98-6T>C
ENST00000699605.1:c.31-6T>C	ENSP00000514473.1:n.31-6T>C
ENST00000446805.2:c.31-6T>C	ENSP00000417012.1:n.31-6T>C
ENST00000003084.11:c.274-6T>C MANE Select	ENSP00000003084.6:n.274-6T>C
ENST00000647978.1:c.*171-6T>C	ENSP00000497658.1:n.*171-6T>C
ENST00000648260.1:c.274-6T>C	ENSP00000497957.1:n.274-6T>C
ENST00000649406.1:c.274-6T>C	ENSP00000497965.1:n.274-6T>C
ENST00000649781.1:c.274-6T>C	ENSP00000497203.1:n.274-6T>C
ENST00000673785.1:c.31-6T>C	ENSP00000501235.1:n.31-6T>C
ENST00000003084.10:c.274-6T>C	ENSP00000003084.6:n.274-6T>C
ENST00000426809.5:c.274-6T>C	ENSP00000389119.1:n.274-6T>C
ENST00000446805.1:c.31-6T>C	ENSP00000417012.1:n.31-6T>C
NM_000492.3:c.274-6T>C , LRG_663t1:c.274-6T>C	NP_000483.3:n.274-6T>C
XM_011515751.1:c.364-6T>C	XP_011514053.1:n.364-6T>C
XM_011515752.1:c.364-6T>C	XP_011514054.1:n.364-6T>C
XM_011515753.1:c.31-6T>C	XP_011514055.1:n.31-6T>C
XM_011515754.1:c.31-6T>C	XP_011514056.1:n.31-6T>C
NM_000492.4:c.274-6T>C MANE Select	NP_000483.3:n.274-6T>C