Canonical Allele Identifier: CA327274

Gene: CFTR

Linked Data

• ClinVar Variation Id: 53802
• ClinVar RCV Id: RCV000595646 ; RCV001081823 ; RCV001163272 ; RCV001509309
• dbSNP Id: rs141723617
• ExAC: 7:117171053 T / C
• gnomAD v2: 7-117171053-T-C
• gnomAD v3: 7-117530999-T-C
• gnomAD v4: 7-117530999-T-C
• MyVariant Identifiers: chr7:g.117171053T>C (hg19) ; chr7:g.117530999T>C (hg38)
• PubMed: PMID:12439892 ; PMID:12952861 ; PMID:16678503 ; PMID:17539902 ; PMID:20879059 ; PMID:23514810 ; PMID:25492507 ; PMID:25869325 ; PMID:26437683

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117530999T>C , CM000669.2:g.117530999T>C	GRCh38
NC_000007.13:g.117171053T>C , CM000669.1:g.117171053T>C	GRCh37
NC_000007.12:g.116958289T>C	NCBI36
NG_016465.4:g.70216T>C , LRG_663:g.70216T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.374T>C	ENSP00000497673.2:p.Ile125Thr
ENST00000647978.2:c.*271T>C	ENSP00000497658.1:n.*271T>C
ENST00000649781.2:c.374T>C	ENSP00000497203.1:p.Ile125Thr
ENST00000685018.2:c.374T>C	ENSP00000510194.2:p.Ile125Thr
ENST00000687278.2:c.374T>C	ENSP00000509593.2:p.Ile125Thr
ENST00000699585.1:c.374T>C	ENSP00000514456.1:p.Ile125Thr
ENST00000699596.1:c.374T>C	ENSP00000514465.1:p.Ile125Thr
ENST00000699597.1:c.374T>C	ENSP00000514466.1:p.Ile125Thr
ENST00000699598.1:c.374T>C	ENSP00000514467.1:p.Ile125Thr
ENST00000699599.1:c.374T>C	ENSP00000514468.1:p.Ile125Thr
ENST00000699600.1:c.374T>C	ENSP00000514469.1:p.Ile125Thr
ENST00000699601.1:c.374T>C	ENSP00000514470.1:p.Ile125Thr
ENST00000699602.1:c.374T>C	ENSP00000514471.1:p.Ile125Thr
ENST00000699604.1:c.*198T>C	ENSP00000514472.1:n.*198T>C
ENST00000699605.1:c.131T>C	ENSP00000514473.1:p.Ile44Thr
ENST00000003084.11:c.374T>C MANE Select	ENSP00000003084.6:p.Ile125Thr
ENST00000647978.1:c.*271T>C	ENSP00000497658.1:n.*271T>C
ENST00000648260.1:c.374T>C	ENSP00000497957.1:p.Ile125Thr
ENST00000649406.1:c.374T>C	ENSP00000497965.1:p.Ile125Thr
ENST00000649781.1:c.374T>C	ENSP00000497203.1:p.Ile125Thr
ENST00000673785.1:c.131T>C	ENSP00000501235.1:p.Ile44Thr
ENST00000003084.10:c.374T>C	ENSP00000003084.6:p.Ile125Thr
ENST00000426809.5:c.374T>C	ENSP00000389119.1:p.Ile125Thr
NM_000492.3:c.374T>C , LRG_663t1:c.374T>C	NP_000483.3:p.Ile125Thr
XM_011515751.1:c.464T>C	XP_011514053.1:p.Ile155Thr
XM_011515752.1:c.464T>C	XP_011514054.1:p.Ile155Thr
XM_011515753.1:c.131T>C	XP_011514055.1:p.Ile44Thr
XM_011515754.1:c.131T>C	XP_011514056.1:p.Ile44Thr
NM_000492.4:c.374T>C MANE Select	NP_000483.3:p.Ile125Thr