Canonical Allele Identifier: CA254112

Gene: CFTR

Linked Data

• ClinVar Variation Id: 7164
• ClinVar RCV Id: RCV000007584 ; RCV000046985 ; RCV000176372 ; RCV000480239 ; RCV000587433 ; RCV001158873
• dbSNP Id: rs11971167
• ExAC: 7:117282582 G / A
• gnomAD v2: 7-117282582-G-A
• gnomAD v3: 7-117642528-G-A
• gnomAD v4: 7-117642528-G-A
• MyVariant Identifiers: chr7:g.117282582G>A (hg19) ; chr7:g.117642528G>A (hg38)
• PubMed: PMID:1545465 ; PMID:7513889 ; PMID:7529962 ; PMID:7532150 ; PMID:8343799 ; PMID:8707306 ; PMID:9921909 ; PMID:9950364 ; PMID:10386624 ; PMID:10649490 ; PMID:10653141 ; PMID:10922395 ; PMID:10923036 ; PMID:12394343 ; PMID:15287992 ; PMID:15371902 ; PMID:15371903 ; PMID:15520400 ; PMID:15994263 ; PMID:17329263 ; PMID:17331079 ; PMID:17975025 ; PMID:18456578 ; PMID:21520337 ; PMID:23891399 ; PMID:23951356 ; PMID:23974870 ; PMID:26014425 ; PMID:27738188

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642528G>A , CM000669.2:g.117642528G>A	GRCh38
NC_000007.13:g.117282582G>A , CM000669.1:g.117282582G>A	GRCh37
NC_000007.12:g.117069818G>A	NCBI36
NG_016465.4:g.181745G>A , LRG_663:g.181745G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*17G>A	ENSP00000497673.2:n.*17G>A
ENST00000647978.2:c.*3522G>A	ENSP00000497658.1:n.*3522G>A
ENST00000649781.2:c.3625G>A	ENSP00000497203.1:p.Asp1209Asn
ENST00000685018.2:c.3808G>A	ENSP00000510194.2:p.Asp1270Asn
ENST00000687278.2:c.*461G>A	ENSP00000509593.2:n.*461G>A
ENST00000699585.1:c.*17G>A	ENSP00000514456.1:n.*17G>A
ENST00000699598.1:c.3808G>A	ENSP00000514467.1:p.Asp1270Asn
ENST00000699599.1:c.3808G>A	ENSP00000514468.1:p.Asp1270Asn
ENST00000699600.1:c.*469G>A	ENSP00000514469.1:n.*469G>A
ENST00000699601.1:c.*2183G>A	ENSP00000514470.1:n.*2183G>A
ENST00000699602.1:c.3802G>A	ENSP00000514471.1:p.Asp1268Asn
ENST00000699604.1:c.*3632G>A	ENSP00000514472.1:n.*3632G>A
ENST00000699605.1:c.3382G>A	ENSP00000514473.1:p.Asp1128Asn
ENST00000685018.1:c.556G>A	ENSP00000510194.1:p.Asp186Asn
ENST00000687278.1:c.1595G>A	ENSP00000509593.1:n.1595G>A
ENST00000689011.1:c.390G>A
ENST00000003084.11:c.3808G>A MANE Select	ENSP00000003084.6:p.Asp1270Asn
ENST00000647720.1:c.1258G>A
ENST00000649781.1:c.3625G>A	ENSP00000497203.1:p.Asp1209Asn
ENST00000003084.10:c.3808G>A	ENSP00000003084.6:p.Asp1270Asn
ENST00000426809.5:c.3718G>A	ENSP00000389119.1:p.Asp1240Asn
NM_000492.3:c.3808G>A , LRG_663t1:c.3808G>A	NP_000483.3:p.Asp1270Asn
XM_011515751.1:c.3898G>A	XP_011514053.1:p.Asp1300Asn
XM_011515752.1:c.3898G>A	XP_011514054.1:p.Asp1300Asn
XM_011515753.1:c.3565G>A	XP_011514055.1:p.Asp1189Asn
XM_011515754.1:c.3565G>A	XP_011514056.1:p.Asp1189Asn
NM_000492.4:c.3808G>A MANE Select	NP_000483.3:p.Asp1270Asn