Canonical Allele Identifier: CA326944

Gene: CFTR

Linked Data

• ClinVar Variation Id: 53579
• ClinVar RCV Id: RCV000046702 ; RCV000587345 ; RCV000624171
• dbSNP Id: rs142773283
• ExAC: 7:117243783 T / C
• gnomAD v2: 7-117243783-T-C
• gnomAD v3: 7-117603729-T-C
• gnomAD v4: 7-117603729-T-C
• MyVariant Identifiers: chr7:g.117243783T>C (hg19) ; chr7:g.117603729T>C (hg38)
• PubMed: PMID:2378364 ; PMID:10376575 ; PMID:10875853 ; PMID:11737931 ; PMID:12833420 ; PMID:12940920 ; PMID:14551163 ; PMID:14685937 ; PMID:15221447 ; PMID:15482777 ; PMID:15619636 ; PMID:16840743 ; PMID:17003641 ; PMID:18463704 ; PMID:18639722 ; PMID:20977904 ; PMID:21152102 ; PMID:21658649 ; PMID:22483971 ; PMID:23457292 ; PMID:23951356 ; PMID:23974870 ; PMID:24451227 ; PMID:25033378 ; PMID:25087612 ; PMID:25735457 ; PMID:26631874 ; PMID:28129809 ; PMID:28129811

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603729T>C , CM000669.2:g.117603729T>C	GRCh38
NC_000007.13:g.117243783T>C , CM000669.1:g.117243783T>C	GRCh37
NC_000007.12:g.117031019T>C	NCBI36
NG_016465.4:g.142946T>C , LRG_663:g.142946T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2855T>C	ENSP00000497673.2:p.Met952Thr
ENST00000647978.2:c.*2569T>C	ENSP00000497658.1:n.*2569T>C
ENST00000649781.2:c.2672T>C	ENSP00000497203.1:p.Met891Thr
ENST00000685018.2:c.2855T>C	ENSP00000510194.2:p.Met952Thr
ENST00000687278.2:c.2855T>C	ENSP00000509593.2:p.Met952Thr
ENST00000699585.1:c.2855T>C	ENSP00000514456.1:p.Met952Thr
ENST00000699598.1:c.2855T>C	ENSP00000514467.1:p.Met952Thr
ENST00000699599.1:c.2855T>C	ENSP00000514468.1:p.Met952Thr
ENST00000699600.1:c.2855T>C	ENSP00000514469.1:p.Met952Thr
ENST00000699601.1:c.*1155T>C	ENSP00000514470.1:n.*1155T>C
ENST00000699602.1:c.2855T>C	ENSP00000514471.1:p.Met952Thr
ENST00000699604.1:c.*2679T>C	ENSP00000514472.1:n.*2679T>C
ENST00000699605.1:c.2429T>C	ENSP00000514473.1:p.Met810Thr
ENST00000687278.1:c.446T>C	ENSP00000509593.1:p.Met149Thr
ENST00000003084.11:c.2855T>C MANE Select	ENSP00000003084.6:p.Met952Thr
ENST00000647720.1:c.505T>C
ENST00000648260.1:c.1637T>C	ENSP00000497957.1:p.Met546Thr
ENST00000649406.1:c.2672T>C	ENSP00000497965.1:p.Met891Thr
ENST00000649781.1:c.2672T>C	ENSP00000497203.1:p.Met891Thr
ENST00000003084.10:c.2855T>C	ENSP00000003084.6:p.Met952Thr
ENST00000426809.5:c.2765T>C	ENSP00000389119.1:p.Met922Thr
NM_000492.3:c.2855T>C , LRG_663t1:c.2855T>C	NP_000483.3:p.Met952Thr
XM_011515751.1:c.2945T>C	XP_011514053.1:p.Met982Thr
XM_011515752.1:c.2945T>C	XP_011514054.1:p.Met982Thr
XM_011515753.1:c.2612T>C	XP_011514055.1:p.Met871Thr
XM_011515754.1:c.2612T>C	XP_011514056.1:p.Met871Thr
NM_000492.4:c.2855T>C MANE Select	NP_000483.3:p.Met952Thr