Canonical Allele Identifier: CA368992464

Gene: CFTR

Linked Data

• ClinVar Variation Id: 2453633
• ClinVar RCV Id: RCV003187768
• MyVariant Identifiers: chr7:g.117251801A>C (hg19) ; chr7:g.117611747A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117611747A>C , CM000669.2:g.117611747A>C	GRCh38
NC_000007.13:g.117251801A>C , CM000669.1:g.117251801A>C	GRCh37
NC_000007.12:g.117039037A>C	NCBI36
NG_016465.4:g.150964A>C , LRG_663:g.150964A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3306A>C	ENSP00000497673.2:p.Arg1102Ser
ENST00000647978.2:c.*3020A>C	ENSP00000497658.1:n.*3020A>C
ENST00000649781.2:c.3123A>C	ENSP00000497203.1:p.Arg1041Ser
ENST00000685018.2:c.3306A>C	ENSP00000510194.2:p.Arg1102Ser
ENST00000687278.2:c.3306A>C	ENSP00000509593.2:p.Arg1102Ser
ENST00000699585.1:c.3306A>C	ENSP00000514456.1:p.Arg1102Ser
ENST00000699598.1:c.3306A>C	ENSP00000514467.1:p.Arg1102Ser
ENST00000699599.1:c.3306A>C	ENSP00000514468.1:p.Arg1102Ser
ENST00000699600.1:c.3306A>C	ENSP00000514469.1:p.Arg1102Ser
ENST00000699601.1:c.*1606A>C	ENSP00000514470.1:n.*1606A>C
ENST00000699602.1:c.3306A>C	ENSP00000514471.1:p.Arg1102Ser
ENST00000699604.1:c.*3130A>C	ENSP00000514472.1:n.*3130A>C
ENST00000699605.1:c.2880A>C	ENSP00000514473.1:p.Arg960Ser
ENST00000685018.1:c.54A>C	ENSP00000510194.1:p.Arg18Ser
ENST00000687278.1:c.897A>C	ENSP00000509593.1:p.Arg299Ser
ENST00000003084.11:c.3306A>C MANE Select	ENSP00000003084.6:p.Arg1102Ser
ENST00000647720.1:c.956A>C
ENST00000648260.1:c.2088A>C	ENSP00000497957.1:p.Arg696Ser
ENST00000649406.1:c.3123A>C	ENSP00000497965.1:p.Arg1041Ser
ENST00000649781.1:c.3123A>C	ENSP00000497203.1:p.Arg1041Ser
ENST00000003084.10:c.3306A>C	ENSP00000003084.6:p.Arg1102Ser
ENST00000426809.5:c.3216A>C	ENSP00000389119.1:p.Arg1072Ser
ENST00000468795.1:c.131A>C
NM_000492.3:c.3306A>C , LRG_663t1:c.3306A>C	NP_000483.3:p.Arg1102Ser
XM_011515751.1:c.3396A>C	XP_011514053.1:p.Arg1132Ser
XM_011515752.1:c.3396A>C	XP_011514054.1:p.Arg1132Ser
XM_011515753.1:c.3063A>C	XP_011514055.1:p.Arg1021Ser
XM_011515754.1:c.3063A>C	XP_011514056.1:p.Arg1021Ser
NM_000492.4:c.3306A>C MANE Select	NP_000483.3:p.Arg1102Ser