Canonical Allele Identifier: CA368982767

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117304868G>C (hg19) ; chr7:g.117664814G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664814G>C , CM000669.2:g.117664814G>C	GRCh38
NC_000007.13:g.117304868G>C , CM000669.1:g.117304868G>C	GRCh37
NC_000007.12:g.117092104G>C	NCBI36
NG_016465.4:g.204031G>C , LRG_663:g.204031G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*299G>C	ENSP00000497673.2:n.*299G>C
ENST00000647978.2:c.*3804G>C	ENSP00000497658.1:n.*3804G>C
ENST00000649781.2:c.3907G>C	ENSP00000497203.1:p.Ala1303Pro
ENST00000685018.2:c.*303G>C	ENSP00000510194.2:n.*303G>C
ENST00000687278.2:c.*743G>C	ENSP00000509593.2:n.*743G>C
ENST00000699585.1:c.*299G>C	ENSP00000514456.1:n.*299G>C
ENST00000699598.1:c.4090G>C	ENSP00000514467.1:p.Ala1364Pro
ENST00000699599.1:c.*303G>C	ENSP00000514468.1:n.*303G>C
ENST00000699600.1:c.*751G>C	ENSP00000514469.1:n.*751G>C
ENST00000699601.1:c.*2465G>C	ENSP00000514470.1:n.*2465G>C
ENST00000699602.1:c.4084G>C	ENSP00000514471.1:p.Ala1362Pro
ENST00000699604.1:c.*3914G>C	ENSP00000514472.1:n.*3914G>C
ENST00000699605.1:c.3664G>C	ENSP00000514473.1:p.Ala1222Pro
ENST00000699606.1:n.2258G>C
ENST00000685018.1:c.954G>C	ENSP00000510194.1:n.954G>C
ENST00000687278.1:c.1877G>C	ENSP00000509593.1:n.1877G>C
ENST00000689011.1:c.672G>C
ENST00000003084.11:c.4090G>C MANE Select	ENSP00000003084.6:p.Ala1364Pro
ENST00000647720.1:c.1540G>C
ENST00000649781.1:c.3907G>C	ENSP00000497203.1:p.Ala1303Pro
ENST00000003084.10:c.4090G>C	ENSP00000003084.6:p.Ala1364Pro
ENST00000426809.5:c.4000G>C	ENSP00000389119.1:p.Ala1334Pro
ENST00000600166.1:c.216G>C
NM_000492.3:c.4090G>C , LRG_663t1:c.4090G>C	NP_000483.3:p.Ala1364Pro
XM_011515751.1:c.4180G>C	XP_011514053.1:p.Ala1394Pro
XM_011515752.1:c.4180G>C	XP_011514054.1:p.Ala1394Pro
XM_011515753.1:c.3847G>C	XP_011514055.1:p.Ala1283Pro
XM_011515754.1:c.3847G>C	XP_011514056.1:p.Ala1283Pro
NM_000492.4:c.4090G>C MANE Select	NP_000483.3:p.Ala1364Pro