Canonical Allele Identifier: CA368990785

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1706008
• ClinVar RCV Id: RCV002284538
• MyVariant Identifiers: chr7:g.117250685T>C (hg19) ; chr7:g.117610631T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117610631T>C , CM000669.2:g.117610631T>C	GRCh38
NC_000007.13:g.117250685T>C , CM000669.1:g.117250685T>C	GRCh37
NC_000007.12:g.117037921T>C	NCBI36
NG_016465.4:g.149848T>C , LRG_663:g.149848T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3101T>C	ENSP00000497673.2:p.Leu1034Pro
ENST00000647978.2:c.*2815T>C	ENSP00000497658.1:n.*2815T>C
ENST00000649781.2:c.2918T>C	ENSP00000497203.1:p.Leu973Pro
ENST00000685018.2:c.3101T>C	ENSP00000510194.2:p.Leu1034Pro
ENST00000687278.2:c.3101T>C	ENSP00000509593.2:p.Leu1034Pro
ENST00000699585.1:c.3101T>C	ENSP00000514456.1:p.Leu1034Pro
ENST00000699598.1:c.3101T>C	ENSP00000514467.1:p.Leu1034Pro
ENST00000699599.1:c.3101T>C	ENSP00000514468.1:p.Leu1034Pro
ENST00000699600.1:c.3101T>C	ENSP00000514469.1:p.Leu1034Pro
ENST00000699601.1:c.*1401T>C	ENSP00000514470.1:n.*1401T>C
ENST00000699602.1:c.3101T>C	ENSP00000514471.1:p.Leu1034Pro
ENST00000699604.1:c.*2925T>C	ENSP00000514472.1:n.*2925T>C
ENST00000699605.1:c.2675T>C	ENSP00000514473.1:p.Leu892Pro
ENST00000687278.1:c.692T>C	ENSP00000509593.1:p.Leu231Pro
ENST00000003084.11:c.3101T>C MANE Select	ENSP00000003084.6:p.Leu1034Pro
ENST00000647720.1:c.751T>C
ENST00000648260.1:c.1883T>C	ENSP00000497957.1:p.Leu628Pro
ENST00000649406.1:c.2918T>C	ENSP00000497965.1:p.Leu973Pro
ENST00000649781.1:c.2918T>C	ENSP00000497203.1:p.Leu973Pro
ENST00000003084.10:c.3101T>C	ENSP00000003084.6:p.Leu1034Pro
ENST00000426809.5:c.3011T>C	ENSP00000389119.1:p.Leu1004Pro
NM_000492.3:c.3101T>C , LRG_663t1:c.3101T>C	NP_000483.3:p.Leu1034Pro
XM_011515751.1:c.3191T>C	XP_011514053.1:p.Leu1064Pro
XM_011515752.1:c.3191T>C	XP_011514054.1:p.Leu1064Pro
XM_011515753.1:c.2858T>C	XP_011514055.1:p.Leu953Pro
XM_011515754.1:c.2858T>C	XP_011514056.1:p.Leu953Pro
NM_000492.4:c.3101T>C MANE Select	NP_000483.3:p.Leu1034Pro