Canonical Allele Identifier: CA201825

Gene: CFTR

Linked Data

• ClinVar Variation Id: 35867
• ClinVar RCV Id: RCV000046895 ; RCV000325638 ; RCV000660854 ; RCV001004498 ; RCV001009365
• dbSNP Id: rs75541969
• ExAC: 7:117254753 G / C
• gnomAD v2: 7-117254753-G-C
• gnomAD v3: 7-117614699-G-C
• gnomAD v4: 7-117614699-G-C
• COSMIC: COSM3257317
• MyVariant Identifiers: chr7:g.117254753G>C (hg19) ; chr7:g.117614699G>C (hg38)
• PubMed: PMID:11180668 ; PMID:11547256 ; PMID:18456578 ; PMID:19843100 ; PMID:20021716 ; PMID:21416780 ; PMID:21520337 ; PMID:21679131 ; PMID:23891399 ; PMID:23951356 ; PMID:25583415 ; PMID:26755536 ; PMID:27086061 ; PMID:27214204 ; PMID:27659740 ; PMID:28129809

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117614699G>C , CM000669.2:g.117614699G>C	GRCh38
NC_000007.13:g.117254753G>C , CM000669.1:g.117254753G>C	GRCh37
NC_000007.12:g.117041989G>C	NCBI36
NG_016465.4:g.153916G>C , LRG_663:g.153916G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3454G>C	ENSP00000497673.2:p.Asp1152His
ENST00000647978.2:c.*3168G>C	ENSP00000497658.1:n.*3168G>C
ENST00000649781.2:c.3271G>C	ENSP00000497203.1:p.Asp1091His
ENST00000685018.2:c.3454G>C	ENSP00000510194.2:p.Asp1152His
ENST00000687278.2:c.3454G>C	ENSP00000509593.2:p.Asp1152His
ENST00000699585.1:c.3454G>C	ENSP00000514456.1:p.Asp1152His
ENST00000699598.1:c.3454G>C	ENSP00000514467.1:p.Asp1152His
ENST00000699599.1:c.3454G>C	ENSP00000514468.1:p.Asp1152His
ENST00000699600.1:c.3454G>C	ENSP00000514469.1:p.Asp1152His
ENST00000699601.1:c.*1829G>C	ENSP00000514470.1:n.*1829G>C
ENST00000699602.1:c.3448G>C	ENSP00000514471.1:p.Asp1150His
ENST00000699604.1:c.*3278G>C	ENSP00000514472.1:n.*3278G>C
ENST00000699605.1:c.3028G>C	ENSP00000514473.1:p.Asp1010His
ENST00000685018.1:c.202G>C	ENSP00000510194.1:p.Asp68His
ENST00000687278.1:c.1045G>C	ENSP00000509593.1:p.Asp349His
ENST00000689011.1:c.36G>C
ENST00000003084.11:c.3454G>C MANE Select	ENSP00000003084.6:p.Asp1152His
ENST00000647720.1:c.1104G>C
ENST00000648260.1:c.2236G>C	ENSP00000497957.1:p.Asp746His
ENST00000649406.1:c.3271G>C	ENSP00000497965.1:p.Asp1091His
ENST00000649781.1:c.3271G>C	ENSP00000497203.1:p.Asp1091His
ENST00000003084.10:c.3454G>C	ENSP00000003084.6:p.Asp1152His
ENST00000426809.5:c.3364G>C	ENSP00000389119.1:p.Asp1122His
ENST00000468795.1:c.279G>C
NM_000492.3:c.3454G>C , LRG_663t1:c.3454G>C	NP_000483.3:p.Asp1152His
XM_011515751.1:c.3544G>C	XP_011514053.1:p.Asp1182His
XM_011515752.1:c.3544G>C	XP_011514054.1:p.Asp1182His
XM_011515753.1:c.3211G>C	XP_011514055.1:p.Asp1071His
XM_011515754.1:c.3211G>C	XP_011514056.1:p.Asp1071His
NM_000492.4:c.3454G>C MANE Select	NP_000483.3:p.Asp1152His