Canonical Allele Identifier: CA10629669

Gene: FREM1

Linked Data

• ClinVar Variation Id: 366048
• ClinVar RCV Id: RCV000316343
• dbSNP Id: rs886063749
• gnomAD v3: 9-14734692-T-G
• gnomAD v4: 9-14734692-T-G
• MyVariant Identifiers: chr9:g.14734690T>G (hg19) ; chr9:g.14734692T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.14734692T>G , CM000671.2:g.14734692T>G	GRCh38
NC_000009.11:g.14734690T>G , CM000671.1:g.14734690T>G	GRCh37
NC_000009.10:g.14724690T>G	NCBI36
NG_017005.2:g.180545A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422223.6:c.*2704A>C	ENSP00000412940.2:n.*2704A>C
NM_001177704.1:c.*2704A>C	NP_001171175.1:n.*2704A>C
NM_144966.5:c.*2704A>C	NP_659403.4:n.*2704A>C
XM_005251382.2:c.*2704A>C	XP_005251439.1:n.*2704A>C
XM_005251384.3:c.*2704A>C	XP_005251441.1:n.*2704A>C
XM_006716729.2:c.*2704A>C	XP_006716792.1:n.*2704A>C
XM_011517748.1:c.*2704A>C	XP_011516050.1:n.*2704A>C
XM_011517749.1:c.*2704A>C	XP_011516051.1:n.*2704A>C
XM_011517750.1:c.*2704A>C	XP_011516052.1:n.*2704A>C
XM_011517751.1:c.*2704A>C	XP_011516053.1:n.*2704A>C
XM_011517752.1:c.*2704A>C	XP_011516054.1:n.*2704A>C
XM_011517753.1:c.*2855A>C	XP_011516055.1:n.*2855A>C
XM_011517758.1:c.*2704A>C	XP_011516060.1:n.*2704A>C
XM_005251382.4:c.*2704A>C	XP_005251439.1:n.*2704A>C
XM_005251384.4:c.*2704A>C	XP_005251441.1:n.*2704A>C
XM_006716729.3:c.*2704A>C	XP_006716792.1:n.*2704A>C
XM_011517758.2:c.*2704A>C	XP_011516060.1:n.*2704A>C
XM_017014316.2:c.*2704A>C	XP_016869805.1:n.*2704A>C
XM_017014317.1:c.*2704A>C	XP_016869806.1:n.*2704A>C
XM_017014319.2:c.*2704A>C	XP_016869808.1:n.*2704A>C
XM_017014320.2:c.*2704A>C	XP_016869809.1:n.*2704A>C
XM_017014321.2:c.*2704A>C	XP_016869810.1:n.*2704A>C
XM_017014322.1:c.*2704A>C	XP_016869811.1:n.*2704A>C
XM_017014323.1:c.*2704A>C	XP_016869812.1:n.*2704A>C
XM_017014324.2:c.*2704A>C	XP_016869813.1:n.*2704A>C
XM_017014325.2:c.*2855A>C	XP_016869814.1:n.*2855A>C
XM_017014326.1:c.*2704A>C	XP_016869815.1:n.*2704A>C
XM_017014327.2:c.*2704A>C	XP_016869816.1:n.*2704A>C
XR_001746194.2:n.10110A>C
XR_001746195.2:n.10107A>C
NM_001370058.1:c.*2855A>C	NP_001356987.1:n.*2855A>C
NM_001370061.1:c.*2704A>C	NP_001356990.1:n.*2704A>C
NR_163238.1:n.8634A>C
NR_163239.1:n.10052A>C
NR_163242.1:n.5066A>C