Canonical Allele Identifier: CA4451580

Gene: CFTR

Linked Data

• ClinVar Variation Id: 2637689
• ClinVar RCV Id: RCV003404987
• dbSNP Id: rs764469050
• ExAC: 7:117292920 T / C
• gnomAD v2: 7-117292920-T-C
• gnomAD v4: 7-117652866-T-C
• MyVariant Identifiers: chr7:g.117292920T>C (hg19) ; chr7:g.117652866T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117652866T>C , CM000669.2:g.117652866T>C	GRCh38
NC_000007.13:g.117292920T>C , CM000669.1:g.117292920T>C	GRCh37
NC_000007.12:g.117080156T>C	NCBI36
NG_016465.4:g.192083T>C , LRG_663:g.192083T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*107T>C	ENSP00000497673.2:n.*107T>C
ENST00000647978.2:c.*3612T>C	ENSP00000497658.1:n.*3612T>C
ENST00000649781.2:c.3715T>C	ENSP00000497203.1:p.Phe1239Leu
ENST00000685018.2:c.*111T>C	ENSP00000510194.2:n.*111T>C
ENST00000687278.2:c.*551T>C	ENSP00000509593.2:n.*551T>C
ENST00000699585.1:c.*107T>C	ENSP00000514456.1:n.*107T>C
ENST00000699598.1:c.3898T>C	ENSP00000514467.1:p.Phe1300Leu
ENST00000699599.1:c.*111T>C	ENSP00000514468.1:n.*111T>C
ENST00000699600.1:c.*559T>C	ENSP00000514469.1:n.*559T>C
ENST00000699601.1:c.*2273T>C	ENSP00000514470.1:n.*2273T>C
ENST00000699602.1:c.3892T>C	ENSP00000514471.1:p.Phe1298Leu
ENST00000699604.1:c.*3722T>C	ENSP00000514472.1:n.*3722T>C
ENST00000699605.1:c.3472T>C	ENSP00000514473.1:p.Phe1158Leu
ENST00000699606.1:n.2066T>C
ENST00000685018.1:c.762T>C	ENSP00000510194.1:n.762T>C
ENST00000687278.1:c.1685T>C	ENSP00000509593.1:n.1685T>C
ENST00000689011.1:c.480T>C
ENST00000003084.11:c.3898T>C MANE Select	ENSP00000003084.6:p.Phe1300Leu
ENST00000647720.1:c.1348T>C
ENST00000649781.1:c.3715T>C	ENSP00000497203.1:p.Phe1239Leu
ENST00000003084.10:c.3898T>C	ENSP00000003084.6:p.Phe1300Leu
ENST00000426809.5:c.3808T>C	ENSP00000389119.1:p.Phe1270Leu
ENST00000600166.1:c.24T>C
NM_000492.3:c.3898T>C , LRG_663t1:c.3898T>C	NP_000483.3:p.Phe1300Leu
XM_011515751.1:c.3988T>C	XP_011514053.1:p.Phe1330Leu
XM_011515752.1:c.3988T>C	XP_011514054.1:p.Phe1330Leu
XM_011515753.1:c.3655T>C	XP_011514055.1:p.Phe1219Leu
XM_011515754.1:c.3655T>C	XP_011514056.1:p.Phe1219Leu
NM_000492.4:c.3898T>C MANE Select	NP_000483.3:p.Phe1300Leu