Canonical Allele Identifier: CA164948697
Gene: CFTR HGNC NCBI

Linked Data

dbSNP Id: rs962139308
MyVariant Identifiers: chr7:g.117119965G>A (hg19) chr7:g.117479911G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479911G>A , CM000669.2:g.117479911G>A GRCh38
NC_000007.13:g.117119965G>A , CM000669.1:g.117119965G>A GRCh37
NC_000007.12:g.116907201G>A NCBI36
NG_016465.4:g.19128G>A , LRG_663:g.19128G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-191+217G>A ENSP00000417012.1:n.-191+217G>A
ENST00000673785.1:c.-406+14080G>A ENSP00000501235.1:n.-406+14080G>A
ENST00000446805.1:c.-191+217G>A ENSP00000417012.1:n.-191+217G>A
ENST00000546407.1:n.166+4103G>A
XM_011515751.1:c.143+566G>A XP_011514053.1:n.143+566G>A
XM_011515752.1:c.143+566G>A XP_011514054.1:n.143+566G>A
XM_011515753.1:c.-191+217G>A XP_011514055.1:n.-191+217G>A
XM_011515754.1:c.-519+217G>A XP_011514056.1:n.-519+217G>A
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