Canonical Allele Identifier: CA327200

Gene: CFTR

Linked Data

• ClinVar Variation Id: 53751
• ClinVar RCV Id: RCV000245337 ; RCV000726749 ; RCV001082947
• dbSNP Id: rs199630678
• ExAC: 7:117267559 T / C
• gnomAD v2: 7-117267559-T-C
• gnomAD v3: 7-117627505-T-C
• gnomAD v4: 7-117627505-T-C
• MyVariant Identifiers: chr7:g.117267559T>C (hg19) ; chr7:g.117627505T>C (hg38)
• PubMed: PMID:7683952 ; PMID:10439967 ; PMID:12815607 ; PMID:17890437 ; PMID:18685558 ; PMID:20021716 ; PMID:23503723

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627505T>C , CM000669.2:g.117627505T>C	GRCh38
NC_000007.13:g.117267559T>C , CM000669.1:g.117267559T>C	GRCh37
NC_000007.12:g.117054795T>C	NCBI36
NG_016465.4:g.166722T>C , LRG_663:g.166722T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3469-17T>C	ENSP00000497673.2:n.3469-17T>C
ENST00000647978.2:c.*3183-17T>C	ENSP00000497658.1:n.*3183-17T>C
ENST00000649781.2:c.3286-17T>C	ENSP00000497203.1:n.3286-17T>C
ENST00000685018.2:c.3469-17T>C	ENSP00000510194.2:n.3469-17T>C
ENST00000687278.2:c.*122-17T>C	ENSP00000509593.2:n.*122-17T>C
ENST00000699585.1:c.3469-17T>C	ENSP00000514456.1:n.3469-17T>C
ENST00000699598.1:c.3469-17T>C	ENSP00000514467.1:n.3469-17T>C
ENST00000699599.1:c.3469-17T>C	ENSP00000514468.1:n.3469-17T>C
ENST00000699600.1:c.*130-17T>C	ENSP00000514469.1:n.*130-17T>C
ENST00000699601.1:c.*1844-17T>C	ENSP00000514470.1:n.*1844-17T>C
ENST00000699602.1:c.3463-17T>C	ENSP00000514471.1:n.3463-17T>C
ENST00000699604.1:c.*3293-17T>C	ENSP00000514472.1:n.*3293-17T>C
ENST00000699605.1:c.3043-17T>C	ENSP00000514473.1:n.3043-17T>C
ENST00000685018.1:c.217-17T>C	ENSP00000510194.1:n.217-17T>C
ENST00000687278.1:c.1256-17T>C	ENSP00000509593.1:n.1256-17T>C
ENST00000689011.1:c.51-17T>C
ENST00000003084.11:c.3469-17T>C MANE Select	ENSP00000003084.6:n.3469-17T>C
ENST00000647720.1:c.1119-17T>C
ENST00000648260.1:c.2251-17T>C	ENSP00000497957.1:n.2251-17T>C
ENST00000649406.1:c.3286-17T>C	ENSP00000497965.1:n.3286-17T>C
ENST00000649781.1:c.3286-17T>C	ENSP00000497203.1:n.3286-17T>C
ENST00000003084.10:c.3469-17T>C	ENSP00000003084.6:n.3469-17T>C
ENST00000426809.5:c.3379-17T>C	ENSP00000389119.1:n.3379-17T>C
ENST00000468795.1:c.294-17T>C
NM_000492.3:c.3469-17T>C , LRG_663t1:c.3469-17T>C	NP_000483.3:n.3469-17T>C
XM_011515751.1:c.3559-17T>C	XP_011514053.1:n.3559-17T>C
XM_011515752.1:c.3559-17T>C	XP_011514054.1:n.3559-17T>C
XM_011515753.1:c.3226-17T>C	XP_011514055.1:n.3226-17T>C
XM_011515754.1:c.3226-17T>C	XP_011514056.1:n.3226-17T>C
NM_000492.4:c.3469-17T>C MANE Select	NP_000483.3:n.3469-17T>C