Canonical Allele Identifier: CA368987650

Gene: CFTR

Linked Data

• ClinVar Variation Id: 3231873
• ClinVar RCV Id: RCV004518588
• MyVariant Identifiers: chr7:g.117243832A>C (hg19) ; chr7:g.117603778A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603778A>C , CM000669.2:g.117603778A>C	GRCh38
NC_000007.13:g.117243832A>C , CM000669.1:g.117243832A>C	GRCh37
NC_000007.12:g.117031068A>C	NCBI36
NG_016465.4:g.142995A>C , LRG_663:g.142995A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2904A>C	ENSP00000497673.2:p.Lys968Asn
ENST00000647978.2:c.*2618A>C	ENSP00000497658.1:n.*2618A>C
ENST00000649781.2:c.2721A>C	ENSP00000497203.1:p.Lys907Asn
ENST00000685018.2:c.2904A>C	ENSP00000510194.2:p.Lys968Asn
ENST00000687278.2:c.2904A>C	ENSP00000509593.2:p.Lys968Asn
ENST00000699585.1:c.2904A>C	ENSP00000514456.1:p.Lys968Asn
ENST00000699598.1:c.2904A>C	ENSP00000514467.1:p.Lys968Asn
ENST00000699599.1:c.2904A>C	ENSP00000514468.1:p.Lys968Asn
ENST00000699600.1:c.2904A>C	ENSP00000514469.1:p.Lys968Asn
ENST00000699601.1:c.*1204A>C	ENSP00000514470.1:n.*1204A>C
ENST00000699602.1:c.2904A>C	ENSP00000514471.1:p.Lys968Asn
ENST00000699604.1:c.*2728A>C	ENSP00000514472.1:n.*2728A>C
ENST00000699605.1:c.2478A>C	ENSP00000514473.1:p.Lys826Asn
ENST00000687278.1:c.495A>C	ENSP00000509593.1:p.Lys165Asn
ENST00000003084.11:c.2904A>C MANE Select	ENSP00000003084.6:p.Lys968Asn
ENST00000647720.1:c.554A>C
ENST00000648260.1:c.1686A>C	ENSP00000497957.1:p.Lys562Asn
ENST00000649406.1:c.2721A>C	ENSP00000497965.1:p.Lys907Asn
ENST00000649781.1:c.2721A>C	ENSP00000497203.1:p.Lys907Asn
ENST00000003084.10:c.2904A>C	ENSP00000003084.6:p.Lys968Asn
ENST00000426809.5:c.2814A>C	ENSP00000389119.1:p.Lys938Asn
NM_000492.3:c.2904A>C , LRG_663t1:c.2904A>C	NP_000483.3:p.Lys968Asn
XM_011515751.1:c.2994A>C	XP_011514053.1:p.Lys998Asn
XM_011515752.1:c.2994A>C	XP_011514054.1:p.Lys998Asn
XM_011515753.1:c.2661A>C	XP_011514055.1:p.Lys887Asn
XM_011515754.1:c.2661A>C	XP_011514056.1:p.Lys887Asn
NM_000492.4:c.2904A>C MANE Select	NP_000483.3:p.Lys968Asn