Canonical Allele Identifier: CA2837759276

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117668027G>T , CM000669.2:g.117668027G>T	GRCh38
NC_000007.13:g.117308081G>T , CM000669.1:g.117308081G>T	GRCh37
NC_000007.12:g.117095317G>T	NCBI36
NG_016465.4:g.207244G>T , LRG_663:g.207244G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*1571G>T	ENSP00000497673.2:n.*1571G>T
ENST00000647978.2:c.*5076G>T	ENSP00000497658.1:n.*5076G>T
ENST00000649781.2:c.*919G>T	ENSP00000497203.1:n.*919G>T
ENST00000685018.2:c.*1575G>T	ENSP00000510194.2:n.*1575G>T
ENST00000687278.2:c.*1051+270G>T	ENSP00000509593.2:n.*1051+270G>T
ENST00000699585.1:c.*1831G>T	ENSP00000514456.1:n.*1831G>T
ENST00000699598.1:c.*454+270G>T	ENSP00000514467.1:n.*454+270G>T
ENST00000699599.1:c.*961+270G>T	ENSP00000514468.1:n.*961+270G>T
ENST00000699600.1:c.*1059+270G>T	ENSP00000514469.1:n.*1059+270G>T
ENST00000699601.1:c.*3737G>T	ENSP00000514470.1:n.*3737G>T
ENST00000699602.1:c.*919G>T	ENSP00000514471.1:n.*919G>T
ENST00000699604.1:c.*5186G>T	ENSP00000514472.1:n.*5186G>T
ENST00000699605.1:c.*919G>T	ENSP00000514473.1:n.*919G>T
ENST00000699606.1:n.4873G>T
ENST00000685018.1:c.2226G>T	ENSP00000510194.1:n.2226G>T
ENST00000687278.1:c.2185+270G>T	ENSP00000509593.1:n.2185+270G>T
ENST00000689011.1:c.2204G>T
ENST00000003084.11:c.*919G>T MANE Select	ENSP00000003084.6:n.*919G>T
ENST00000647720.1:c.2812G>T
ENST00000003084.10:c.*919G>T	ENSP00000003084.6:n.*919G>T
ENST00000600166.1:c.368+2463G>T
NM_000492.3:c.*919G>T , LRG_663t1:c.*919G>T	NP_000483.3:n.*919G>T
XM_011515751.1:c.*919G>T	XP_011514053.1:n.*919G>T
XM_011515753.1:c.*919G>T	XP_011514055.1:n.*919G>T
XM_011515754.1:c.*919G>T	XP_011514056.1:n.*919G>T
NM_000492.4:c.*919G>T MANE Select	NP_000483.3:n.*919G>T