Canonical Allele Identifier: CA368997286

Gene: CFTR

Linked Data

• ClinVar Variation Id: 2200420
• ClinVar RCV Id: RCV002644128
• dbSNP Id: rs1266135988
• gnomAD v3: 7-117627690-A-C
• gnomAD v4: 7-117627690-A-C
• MyVariant Identifiers: chr7:g.117267744A>C (hg19) ; chr7:g.117627690A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627690A>C , CM000669.2:g.117627690A>C	GRCh38
NC_000007.13:g.117267744A>C , CM000669.1:g.117267744A>C	GRCh37
NC_000007.12:g.117054980A>C	NCBI36
NG_016465.4:g.166907A>C , LRG_663:g.166907A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3517+120A>C	ENSP00000497673.2:n.3517+120A>C
ENST00000647978.2:c.*3351A>C	ENSP00000497658.1:n.*3351A>C
ENST00000649781.2:c.3454A>C	ENSP00000497203.1:p.Lys1152Gln
ENST00000685018.2:c.3637A>C	ENSP00000510194.2:p.Lys1213Gln
ENST00000687278.2:c.*290A>C	ENSP00000509593.2:n.*290A>C
ENST00000699585.1:c.3517+120A>C	ENSP00000514456.1:n.3517+120A>C
ENST00000699598.1:c.3637A>C	ENSP00000514467.1:p.Lys1213Gln
ENST00000699599.1:c.3637A>C	ENSP00000514468.1:p.Lys1213Gln
ENST00000699600.1:c.*298A>C	ENSP00000514469.1:n.*298A>C
ENST00000699601.1:c.*2012A>C	ENSP00000514470.1:n.*2012A>C
ENST00000699602.1:c.3631A>C	ENSP00000514471.1:p.Lys1211Gln
ENST00000699604.1:c.*3461A>C	ENSP00000514472.1:n.*3461A>C
ENST00000699605.1:c.3211A>C	ENSP00000514473.1:p.Lys1071Gln
ENST00000685018.1:c.385A>C	ENSP00000510194.1:p.Lys129Gln
ENST00000687278.1:c.1424A>C	ENSP00000509593.1:n.1424A>C
ENST00000689011.1:c.219A>C
ENST00000003084.11:c.3637A>C MANE Select	ENSP00000003084.6:p.Lys1213Gln
ENST00000647720.1:c.1167+120A>C
ENST00000648260.1:c.2419A>C	ENSP00000497957.1:p.Lys807Gln
ENST00000649406.1:c.3454A>C	ENSP00000497965.1:p.Lys1152Gln
ENST00000649781.1:c.3454A>C	ENSP00000497203.1:p.Lys1152Gln
ENST00000003084.10:c.3637A>C	ENSP00000003084.6:p.Lys1213Gln
ENST00000426809.5:c.3547A>C	ENSP00000389119.1:p.Lys1183Gln
ENST00000468795.1:c.462A>C
NM_000492.3:c.3637A>C , LRG_663t1:c.3637A>C	NP_000483.3:p.Lys1213Gln
XM_011515751.1:c.3727A>C	XP_011514053.1:p.Lys1243Gln
XM_011515752.1:c.3727A>C	XP_011514054.1:p.Lys1243Gln
XM_011515753.1:c.3394A>C	XP_011514055.1:p.Lys1132Gln
XM_011515754.1:c.3394A>C	XP_011514056.1:p.Lys1132Gln
NM_000492.4:c.3637A>C MANE Select	NP_000483.3:p.Lys1213Gln