Canonical Allele Identifier: CA4450912

Gene: CFTR

Linked Data

• ClinVar Variation Id: 495887
• ClinVar RCV Id: RCV000590683 ; RCV000765924 ; RCV000822612 ; RCV001158655 ; RCV001580520 ; RCV001803865
• dbSNP Id: rs143860237
• ExAC: 7:117182116 C / T
• gnomAD v2: 7-117182116-C-T
• gnomAD v3: 7-117542062-C-T
• gnomAD v4: 7-117542062-C-T
• MyVariant Identifiers: chr7:g.117182116C>T (hg19) ; chr7:g.117542062C>T (hg38)
• PubMed: PMID:11354633 ; PMID:15070876 ; PMID:26708955

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117542062C>T , CM000669.2:g.117542062C>T	GRCh38
NC_000007.13:g.117182116C>T , CM000669.1:g.117182116C>T	GRCh37
NC_000007.12:g.116969352C>T	NCBI36
NG_016465.4:g.81279C>T , LRG_663:g.81279C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1163C>T	ENSP00000497673.2:p.Thr388Met
ENST00000647978.2:c.*1060C>T	ENSP00000497658.1:n.*1060C>T
ENST00000649781.2:c.1163C>T	ENSP00000497203.1:p.Thr388Met
ENST00000685018.2:c.1163C>T	ENSP00000510194.2:p.Thr388Met
ENST00000687278.2:c.1163C>T	ENSP00000509593.2:p.Thr388Met
ENST00000699585.1:c.1163C>T	ENSP00000514456.1:p.Thr388Met
ENST00000699596.1:c.1163C>T	ENSP00000514465.1:p.Thr388Met
ENST00000699597.1:c.1163C>T	ENSP00000514466.1:p.Thr388Met
ENST00000699598.1:c.1163C>T	ENSP00000514467.1:p.Thr388Met
ENST00000699599.1:c.1163C>T	ENSP00000514468.1:p.Thr388Met
ENST00000699600.1:c.1163C>T	ENSP00000514469.1:p.Thr388Met
ENST00000699601.1:c.1163C>T	ENSP00000514470.1:p.Thr388Met
ENST00000699602.1:c.1163C>T	ENSP00000514471.1:p.Thr388Met
ENST00000699604.1:c.*987C>T	ENSP00000514472.1:n.*987C>T
ENST00000699605.1:c.920C>T	ENSP00000514473.1:p.Thr307Met
ENST00000003084.11:c.1163C>T MANE Select	ENSP00000003084.6:p.Thr388Met
ENST00000647978.1:c.*1060C>T	ENSP00000497658.1:n.*1060C>T
ENST00000648260.1:c.1163C>T	ENSP00000497957.1:p.Thr388Met
ENST00000649406.1:c.1163C>T	ENSP00000497965.1:p.Thr388Met
ENST00000649781.1:c.1163C>T	ENSP00000497203.1:p.Thr388Met
ENST00000673785.1:c.920C>T	ENSP00000501235.1:p.Thr307Met
ENST00000003084.10:c.1163C>T	ENSP00000003084.6:p.Thr388Met
ENST00000426809.5:c.1073C>T	ENSP00000389119.1:p.Thr358Met
NM_000492.3:c.1163C>T , LRG_663t1:c.1163C>T	NP_000483.3:p.Thr388Met
XM_011515751.1:c.1253C>T	XP_011514053.1:p.Thr418Met
XM_011515752.1:c.1253C>T	XP_011514054.1:p.Thr418Met
XM_011515753.1:c.920C>T	XP_011514055.1:p.Thr307Met
XM_011515754.1:c.920C>T	XP_011514056.1:p.Thr307Met
NM_000492.4:c.1163C>T MANE Select	NP_000483.3:p.Thr388Met