Canonical Allele Identifier: CA4475353

Gene: FLNC

Linked Data

• ClinVar Variation Id: 1020737
• ClinVar RCV Id: RCV001320367 ; RCV004035004
• dbSNP Id: rs754076573
• ExAC: 7:128488010 C / T
• gnomAD v2: 7-128488010-C-T
• gnomAD v3: 7-128847956-C-T
• gnomAD v4: 7-128847956-C-T
• MyVariant Identifiers: chr7:g.128488010C>T (hg19) ; chr7:g.128847956C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128847956C>T , CM000669.2:g.128847956C>T	GRCh38
NC_000007.13:g.128488010C>T , CM000669.1:g.128488010C>T	GRCh37
NC_000007.12:g.128275246C>T	NCBI36
NG_011807.1:g.22528C>T , LRG_870:g.22528C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325888.13:c.4468C>T MANE Select	ENSP00000327145.8:p.Pro1490Ser
ENST00000325888.12:c.4468C>T	ENSP00000327145.8:p.Pro1490Ser
ENST00000346177.6:c.4468C>T	ENSP00000344002.6:p.Pro1490Ser
NM_001127487.1:c.4468C>T	NP_001120959.1:p.Pro1490Ser
NM_001458.4:c.4468C>T , LRG_870t1:c.4468C>T	NP_001449.3:p.Pro1490Ser
NM_001127487.2:c.4468C>T	NP_001120959.1:p.Pro1490Ser
NM_001458.5:c.4468C>T MANE Select	NP_001449.3:p.Pro1490Ser