Canonical Allele Identifier: CA146697

Gene: CFTR

Linked Data

• ClinVar Variation Id: 35860
• ClinVar RCV Id: RCV000029515 ; RCV000078993 ; RCV000224628 ; RCV001163494
• dbSNP Id: rs1800112
• ExAC: 7:117250664 T / C
• gnomAD v2: 7-117250664-T-C
• gnomAD v3: 7-117610610-T-C
• gnomAD v4: 7-117610610-T-C
• MyVariant Identifiers: chr7:g.117250664T>C (hg19) ; chr7:g.117610610T>C (hg38)
• PubMed: PMID:1379210 ; PMID:8956039 ; PMID:15858154 ; PMID:17035430 ; PMID:17825628 ; PMID:21520337 ; PMID:23951356 ; PMID:23974870 ; PMID:25287046 ; PMID:26574590

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117610610T>C , CM000669.2:g.117610610T>C	GRCh38
NC_000007.13:g.117250664T>C , CM000669.1:g.117250664T>C	GRCh37
NC_000007.12:g.117037900T>C	NCBI36
NG_016465.4:g.149827T>C , LRG_663:g.149827T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3080T>C	ENSP00000497673.2:p.Ile1027Thr
ENST00000647978.2:c.*2794T>C	ENSP00000497658.1:n.*2794T>C
ENST00000649781.2:c.2897T>C	ENSP00000497203.1:p.Ile966Thr
ENST00000685018.2:c.3080T>C	ENSP00000510194.2:p.Ile1027Thr
ENST00000687278.2:c.3080T>C	ENSP00000509593.2:p.Ile1027Thr
ENST00000699585.1:c.3080T>C	ENSP00000514456.1:p.Ile1027Thr
ENST00000699598.1:c.3080T>C	ENSP00000514467.1:p.Ile1027Thr
ENST00000699599.1:c.3080T>C	ENSP00000514468.1:p.Ile1027Thr
ENST00000699600.1:c.3080T>C	ENSP00000514469.1:p.Ile1027Thr
ENST00000699601.1:c.*1380T>C	ENSP00000514470.1:n.*1380T>C
ENST00000699602.1:c.3080T>C	ENSP00000514471.1:p.Ile1027Thr
ENST00000699604.1:c.*2904T>C	ENSP00000514472.1:n.*2904T>C
ENST00000699605.1:c.2654T>C	ENSP00000514473.1:p.Ile885Thr
ENST00000687278.1:c.671T>C	ENSP00000509593.1:p.Ile224Thr
ENST00000003084.11:c.3080T>C MANE Select	ENSP00000003084.6:p.Ile1027Thr
ENST00000647720.1:c.730T>C
ENST00000648260.1:c.1862T>C	ENSP00000497957.1:p.Ile621Thr
ENST00000649406.1:c.2897T>C	ENSP00000497965.1:p.Ile966Thr
ENST00000649781.1:c.2897T>C	ENSP00000497203.1:p.Ile966Thr
ENST00000003084.10:c.3080T>C	ENSP00000003084.6:p.Ile1027Thr
ENST00000426809.5:c.2990T>C	ENSP00000389119.1:p.Ile997Thr
NM_000492.3:c.3080T>C , LRG_663t1:c.3080T>C	NP_000483.3:p.Ile1027Thr
XM_011515751.1:c.3170T>C	XP_011514053.1:p.Ile1057Thr
XM_011515752.1:c.3170T>C	XP_011514054.1:p.Ile1057Thr
XM_011515753.1:c.2837T>C	XP_011514055.1:p.Ile946Thr
XM_011515754.1:c.2837T>C	XP_011514056.1:p.Ile946Thr
NM_000492.4:c.3080T>C MANE Select	NP_000483.3:p.Ile1027Thr