Canonical Allele Identifier: CA368985144

Gene: CFTR

Linked Data

• COSMIC: COSM744919
• MyVariant Identifiers: chr7:g.117307086G>T (hg19) ; chr7:g.117667032G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117667032G>T , CM000669.2:g.117667032G>T	GRCh38
NC_000007.13:g.117307086G>T , CM000669.1:g.117307086G>T	GRCh37
NC_000007.12:g.117094322G>T	NCBI36
NG_016465.4:g.206249G>T , LRG_663:g.206249G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*576G>T	ENSP00000497673.2:n.*576G>T
ENST00000647978.2:c.*4081G>T	ENSP00000497658.1:n.*4081G>T
ENST00000649781.2:c.4184G>T	ENSP00000497203.1:p.Ser1395Ile
ENST00000685018.2:c.*580G>T	ENSP00000510194.2:n.*580G>T
ENST00000687278.2:c.*896-570G>T	ENSP00000509593.2:n.*896-570G>T
ENST00000699585.1:c.*836G>T	ENSP00000514456.1:n.*836G>T
ENST00000699598.1:c.*73G>T	ENSP00000514467.1:n.*73G>T
ENST00000699599.1:c.*580G>T	ENSP00000514468.1:n.*580G>T
ENST00000699600.1:c.*904-570G>T	ENSP00000514469.1:n.*904-570G>T
ENST00000699601.1:c.*2742G>T	ENSP00000514470.1:n.*2742G>T
ENST00000699602.1:c.4361G>T	ENSP00000514471.1:p.Ser1454Ile
ENST00000699604.1:c.*4191G>T	ENSP00000514472.1:n.*4191G>T
ENST00000699605.1:c.3941G>T	ENSP00000514473.1:p.Ser1314Ile
ENST00000699606.1:n.3878G>T
ENST00000685018.1:c.1231G>T	ENSP00000510194.1:n.1231G>T
ENST00000687278.1:c.2030-570G>T	ENSP00000509593.1:n.2030-570G>T
ENST00000689011.1:c.1209G>T
ENST00000003084.11:c.4367G>T MANE Select	ENSP00000003084.6:p.Ser1456Ile
ENST00000647720.1:c.1817G>T
ENST00000649781.1:c.4184G>T	ENSP00000497203.1:p.Ser1395Ile
ENST00000003084.10:c.4367G>T	ENSP00000003084.6:p.Ser1456Ile
ENST00000426809.5:c.4277G>T	ENSP00000389119.1:p.Ser1426Ile
ENST00000600166.1:c.368+1468G>T
NM_000492.3:c.4367G>T , LRG_663t1:c.4367G>T	NP_000483.3:p.Ser1456Ile
XM_011515751.1:c.4457G>T	XP_011514053.1:p.Ser1486Ile
XM_011515753.1:c.4124G>T	XP_011514055.1:p.Ser1375Ile
XM_011515754.1:c.4124G>T	XP_011514056.1:p.Ser1375Ile
NM_000492.4:c.4367G>T MANE Select	NP_000483.3:p.Ser1456Ile