Canonical Allele Identifier: CA327056

Gene: CFTR

Linked Data

• ClinVar Variation Id: 53659
• ClinVar RCV Id: RCV000577601
• dbSNP Id: rs397508504
• MyVariant Identifiers: chr7:g.117250723G>C (hg19) ; chr7:g.117610669G>C (hg38)
• PubMed: PMID:16275171

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117610669G>C , CM000669.2:g.117610669G>C	GRCh38
NC_000007.13:g.117250723G>C , CM000669.1:g.117250723G>C	GRCh37
NC_000007.12:g.117037959G>C	NCBI36
NG_016465.4:g.149886G>C , LRG_663:g.149886G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3139G>C	ENSP00000497673.2:p.Gly1047Arg
ENST00000647978.2:c.*2853G>C	ENSP00000497658.1:n.*2853G>C
ENST00000649781.2:c.2956G>C	ENSP00000497203.1:p.Gly986Arg
ENST00000685018.2:c.3139G>C	ENSP00000510194.2:p.Gly1047Arg
ENST00000687278.2:c.3139G>C	ENSP00000509593.2:p.Gly1047Arg
ENST00000699585.1:c.3139G>C	ENSP00000514456.1:p.Gly1047Arg
ENST00000699598.1:c.3139G>C	ENSP00000514467.1:p.Gly1047Arg
ENST00000699599.1:c.3139G>C	ENSP00000514468.1:p.Gly1047Arg
ENST00000699600.1:c.3139G>C	ENSP00000514469.1:p.Gly1047Arg
ENST00000699601.1:c.*1439G>C	ENSP00000514470.1:n.*1439G>C
ENST00000699602.1:c.3139G>C	ENSP00000514471.1:p.Gly1047Arg
ENST00000699604.1:c.*2963G>C	ENSP00000514472.1:n.*2963G>C
ENST00000699605.1:c.2713G>C	ENSP00000514473.1:p.Gly905Arg
ENST00000687278.1:c.730G>C	ENSP00000509593.1:p.Gly244Arg
ENST00000003084.11:c.3139G>C MANE Select	ENSP00000003084.6:p.Gly1047Arg
ENST00000647720.1:c.789G>C
ENST00000648260.1:c.1921G>C	ENSP00000497957.1:p.Gly641Arg
ENST00000649406.1:c.2956G>C	ENSP00000497965.1:p.Gly986Arg
ENST00000649781.1:c.2956G>C	ENSP00000497203.1:p.Gly986Arg
ENST00000003084.10:c.3139G>C	ENSP00000003084.6:p.Gly1047Arg
ENST00000426809.5:c.3049G>C	ENSP00000389119.1:p.Gly1017Arg
NM_000492.3:c.3139G>C , LRG_663t1:c.3139G>C	NP_000483.3:p.Gly1047Arg
XM_011515751.1:c.3229G>C	XP_011514053.1:p.Gly1077Arg
XM_011515752.1:c.3229G>C	XP_011514054.1:p.Gly1077Arg
XM_011515753.1:c.2896G>C	XP_011514055.1:p.Gly966Arg
XM_011515754.1:c.2896G>C	XP_011514056.1:p.Gly966Arg
NM_000492.4:c.3139G>C MANE Select	NP_000483.3:p.Gly1047Arg