Canonical Allele Identifier: CA295269521

Gene: FN3KRP

Linked Data

• dbSNP Id: rs916583249
• gnomAD v4: 17-82727271-C-T
• MyVariant Identifiers: chr17:g.80685147C>T (hg19) ; chr17:g.82727271C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82727271C>T , CM000679.2:g.82727271C>T	GRCh38
NC_000017.10:g.80685147C>T , CM000679.1:g.80685147C>T	GRCh37
NC_000017.9:g.78278436C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269373.11:c.*100C>T MANE Select	ENSP00000269373.6:n.*100C>T
ENST00000269373.10:c.*100C>T	ENSP00000269373.6:n.*100C>T
ENST00000571594.1:c.53+104C>T	ENSP00000459751.1:n.53+104C>T
ENST00000574832.5:c.*987C>T	ENSP00000460869.1:n.*987C>T
NM_024619.3:c.*100C>T	NP_078895.2:n.*100C>T
NR_046408.1:n.1208C>T
XM_024450948.1:c.*100C>T	XP_024306716.1:n.*100C>T
NM_024619.4:c.*100C>T MANE Select	NP_078895.2:n.*100C>T
NR_046408.2:n.1208C>T