Canonical Allele Identifier: CA368978042

Gene: CFTR

Linked Data

• gnomAD v4: 7-117652857-T-C
• MyVariant Identifiers: chr7:g.117292911T>C (hg19) ; chr7:g.117652857T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117652857T>C , CM000669.2:g.117652857T>C	GRCh38
NC_000007.13:g.117292911T>C , CM000669.1:g.117292911T>C	GRCh37
NC_000007.12:g.117080147T>C	NCBI36
NG_016465.4:g.192074T>C , LRG_663:g.192074T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*98T>C	ENSP00000497673.2:n.*98T>C
ENST00000647978.2:c.*3603T>C	ENSP00000497658.1:n.*3603T>C
ENST00000649781.2:c.3706T>C	ENSP00000497203.1:p.Ser1236Pro
ENST00000685018.2:c.*102T>C	ENSP00000510194.2:n.*102T>C
ENST00000687278.2:c.*542T>C	ENSP00000509593.2:n.*542T>C
ENST00000699585.1:c.*98T>C	ENSP00000514456.1:n.*98T>C
ENST00000699598.1:c.3889T>C	ENSP00000514467.1:p.Ser1297Pro
ENST00000699599.1:c.*102T>C	ENSP00000514468.1:n.*102T>C
ENST00000699600.1:c.*550T>C	ENSP00000514469.1:n.*550T>C
ENST00000699601.1:c.*2264T>C	ENSP00000514470.1:n.*2264T>C
ENST00000699602.1:c.3883T>C	ENSP00000514471.1:p.Ser1295Pro
ENST00000699604.1:c.*3713T>C	ENSP00000514472.1:n.*3713T>C
ENST00000699605.1:c.3463T>C	ENSP00000514473.1:p.Ser1155Pro
ENST00000699606.1:n.2057T>C
ENST00000685018.1:c.753T>C	ENSP00000510194.1:n.753T>C
ENST00000687278.1:c.1676T>C	ENSP00000509593.1:n.1676T>C
ENST00000689011.1:c.471T>C
ENST00000003084.11:c.3889T>C MANE Select	ENSP00000003084.6:p.Ser1297Pro
ENST00000647720.1:c.1339T>C
ENST00000649781.1:c.3706T>C	ENSP00000497203.1:p.Ser1236Pro
ENST00000003084.10:c.3889T>C	ENSP00000003084.6:p.Ser1297Pro
ENST00000426809.5:c.3799T>C	ENSP00000389119.1:p.Ser1267Pro
ENST00000600166.1:c.15T>C
NM_000492.3:c.3889T>C , LRG_663t1:c.3889T>C	NP_000483.3:p.Ser1297Pro
XM_011515751.1:c.3979T>C	XP_011514053.1:p.Ser1327Pro
XM_011515752.1:c.3979T>C	XP_011514054.1:p.Ser1327Pro
XM_011515753.1:c.3646T>C	XP_011514055.1:p.Ser1216Pro
XM_011515754.1:c.3646T>C	XP_011514056.1:p.Ser1216Pro
NM_000492.4:c.3889T>C MANE Select	NP_000483.3:p.Ser1297Pro