Canonical Allele Identifier: CA327367

Gene: CFTR

Linked Data

• ClinVar Variation Id: 53865
• ClinVar RCV Id: RCV000576921
• dbSNP Id: rs397508653
• MyVariant Identifiers: chr7:g.117304749T>C (hg19) ; chr7:g.117664695T>C (hg38)
• PubMed: PMID:20163773

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664695T>C , CM000669.2:g.117664695T>C	GRCh38
NC_000007.13:g.117304749T>C , CM000669.1:g.117304749T>C	GRCh37
NC_000007.12:g.117091985T>C	NCBI36
NG_016465.4:g.203912T>C , LRG_663:g.203912T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*180T>C	ENSP00000497673.2:n.*180T>C
ENST00000647978.2:c.*3685T>C	ENSP00000497658.1:n.*3685T>C
ENST00000649781.2:c.3788T>C	ENSP00000497203.1:p.Leu1263Pro
ENST00000685018.2:c.*184T>C	ENSP00000510194.2:n.*184T>C
ENST00000687278.2:c.*624T>C	ENSP00000509593.2:n.*624T>C
ENST00000699585.1:c.*180T>C	ENSP00000514456.1:n.*180T>C
ENST00000699598.1:c.3971T>C	ENSP00000514467.1:p.Leu1324Pro
ENST00000699599.1:c.*184T>C	ENSP00000514468.1:n.*184T>C
ENST00000699600.1:c.*632T>C	ENSP00000514469.1:n.*632T>C
ENST00000699601.1:c.*2346T>C	ENSP00000514470.1:n.*2346T>C
ENST00000699602.1:c.3965T>C	ENSP00000514471.1:p.Leu1322Pro
ENST00000699604.1:c.*3795T>C	ENSP00000514472.1:n.*3795T>C
ENST00000699605.1:c.3545T>C	ENSP00000514473.1:p.Leu1182Pro
ENST00000699606.1:n.2139T>C
ENST00000685018.1:c.835T>C	ENSP00000510194.1:n.835T>C
ENST00000687278.1:c.1758T>C	ENSP00000509593.1:n.1758T>C
ENST00000689011.1:c.553T>C
ENST00000003084.11:c.3971T>C MANE Select	ENSP00000003084.6:p.Leu1324Pro
ENST00000647720.1:c.1421T>C
ENST00000649781.1:c.3788T>C	ENSP00000497203.1:p.Leu1263Pro
ENST00000003084.10:c.3971T>C	ENSP00000003084.6:p.Leu1324Pro
ENST00000426809.5:c.3881T>C	ENSP00000389119.1:p.Leu1294Pro
ENST00000600166.1:c.97T>C
NM_000492.3:c.3971T>C , LRG_663t1:c.3971T>C	NP_000483.3:p.Leu1324Pro
XM_011515751.1:c.4061T>C	XP_011514053.1:p.Leu1354Pro
XM_011515752.1:c.4061T>C	XP_011514054.1:p.Leu1354Pro
XM_011515753.1:c.3728T>C	XP_011514055.1:p.Leu1243Pro
XM_011515754.1:c.3728T>C	XP_011514056.1:p.Leu1243Pro
NM_000492.4:c.3971T>C MANE Select	NP_000483.3:p.Leu1324Pro