Canonical Allele Identifier: CA618333

Gene: FBLIM1

Linked Data

• dbSNP Id: rs764345647
• ExAC: 1:16094972 G / C
• gnomAD v2: 1-16094972-G-C
• gnomAD v3: 1-15768477-G-C
• gnomAD v4: 1-15768477-G-C
• MyVariant Identifiers: chr1:g.16094972G>C (hg19) ; chr1:g.15768477G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.15768477G>C , CM000663.2:g.15768477G>C	GRCh38
NC_000001.10:g.16094972G>C , CM000663.1:g.16094972G>C	GRCh37
NC_000001.9:g.15967559G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000375766.8:c.439-51G>C MANE Select	ENSP00000364921.3:n.439-51G>C
ENST00000332305.5:c.251-1932G>C	ENSP00000364920.2:n.251-1932G>C
ENST00000375766.7:c.439-51G>C	ENSP00000364921.3:n.439-51G>C
ENST00000375771.5:c.439-51G>C	ENSP00000364926.1:n.439-51G>C
ENST00000441801.6:c.439-51G>C	ENSP00000416387.2:n.439-51G>C
ENST00000502739.5:c.251-1932G>C	ENSP00000424920.1:n.251-1932G>C
NM_001024215.1:c.439-51G>C	NP_001019386.1:n.439-51G>C
NM_001024216.1:c.251-1932G>C	NP_001019387.1:n.251-1932G>C
NM_017556.2:c.439-51G>C	NP_060026.2:n.439-51G>C
XM_005245900.1:c.439-51G>C	XP_005245957.1:n.439-51G>C
XM_005245901.1:c.439-51G>C	XP_005245958.1:n.439-51G>C
XM_005245902.1:c.439-51G>C	XP_005245959.1:n.439-51G>C
XM_005245903.1:c.439-51G>C	XP_005245960.1:n.439-51G>C
XM_005245909.2:c.439-51G>C	XP_005245966.1:n.439-51G>C
XM_006710704.2:c.439-51G>C	XP_006710767.1:n.439-51G>C
XM_006710705.1:c.439-51G>C	XP_006710768.1:n.439-51G>C
XM_011541616.1:c.439-51G>C	XP_011539918.1:n.439-51G>C
XM_011541617.1:c.439-51G>C	XP_011539919.1:n.439-51G>C
XM_011541618.1:c.439-51G>C	XP_011539920.1:n.439-51G>C
XM_011541619.1:c.251-1932G>C	XP_011539921.1:n.251-1932G>C
XR_946670.1:n.949-51G>C
NM_001024216.2:c.251-1932G>C	NP_001019387.1:n.251-1932G>C
NM_001350151.1:c.439-51G>C	NP_001337080.1:n.439-51G>C
NM_017556.3:c.439-51G>C	NP_060026.2:n.439-51G>C
XM_006710704.3:c.439-51G>C	XP_006710767.1:n.439-51G>C
XM_011541616.2:c.439-51G>C	XP_011539918.1:n.439-51G>C
XM_011541617.2:c.439-51G>C	XP_011539919.1:n.439-51G>C
XM_011541618.3:c.439-51G>C	XP_011539920.1:n.439-51G>C
XM_017001519.2:c.439-51G>C	XP_016857008.1:n.439-51G>C
XM_017001520.2:c.439-51G>C	XP_016857009.1:n.439-51G>C
XM_017001521.2:c.439-51G>C	XP_016857010.1:n.439-51G>C
XM_017001523.1:c.439-51G>C	XP_016857012.1:n.439-51G>C
XM_017001524.1:c.439-51G>C	XP_016857013.1:n.439-51G>C
XM_017001525.1:c.439-51G>C	XP_016857014.1:n.439-51G>C
XM_017001526.2:c.439-51G>C	XP_016857015.1:n.439-51G>C
XM_024447751.1:c.439-51G>C	XP_024303519.1:n.439-51G>C
NM_017556.4:c.439-51G>C MANE Select	NP_060026.2:n.439-51G>C
NM_001024216.3:c.251-1932G>C	NP_001019387.1:n.251-1932G>C
NM_001350151.2:c.439-51G>C	NP_001337080.1:n.439-51G>C