Canonical Allele Identifier: CA406495866

Gene: FKRP

Linked Data

• dbSNP Id: rs1448342428
• gnomAD v2: 19-47259421-G-C
• gnomAD v3: 19-46756164-G-C
• gnomAD v4: 19-46756164-G-C
• MyVariant Identifiers: chr19:g.47259421G>C (hg19) ; chr19:g.46756164G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.46756164G>C , CM000681.2:g.46756164G>C	GRCh38
NC_000019.9:g.47259421G>C , CM000681.1:g.47259421G>C	GRCh37
NC_000019.8:g.51951261G>C	NCBI36
NG_008898.2:g.15119G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318584.10:c.714G>C MANE Select	ENSP00000326570.4:p.Leu238Phe
ENST00000318584.9:c.714G>C	ENSP00000326570.4:p.Leu238Phe
ENST00000391909.7:c.714G>C	ENSP00000375776.2:p.Leu238Phe
ENST00000597339.5:n.247-5669G>C
ENST00000600646.5:n.247+7499G>C
NM_001039885.2:c.714G>C	NP_001034974.1:p.Leu238Phe
NM_024301.4:c.714G>C	NP_077277.1:p.Leu238Phe
XM_005259247.1:c.714G>C	XP_005259304.1:p.Leu238Phe
XM_005259248.1:c.714G>C	XP_005259305.1:p.Leu238Phe
XM_005259249.3:c.714G>C	XP_005259306.1:p.Leu238Phe
XM_005259250.3:c.714G>C	XP_005259307.1:p.Leu238Phe
XM_011527301.1:c.714G>C	XP_011525603.1:p.Leu238Phe
XM_011527302.1:c.714G>C	XP_011525604.1:p.Leu238Phe
XM_011527303.1:c.714G>C	XP_011525605.1:p.Leu238Phe
XM_011527304.1:c.714G>C	XP_011525606.1:p.Leu238Phe
XM_011527305.1:c.714G>C	XP_011525607.1:p.Leu238Phe
XM_011527306.1:c.714G>C	XP_011525608.1:p.Leu238Phe
XM_011527307.1:c.714G>C	XP_011525609.1:p.Leu238Phe
XM_005259247.2:c.714G>C	XP_005259304.1:p.Leu238Phe
XM_005259248.2:c.714G>C	XP_005259305.1:p.Leu238Phe
XM_005259249.4:c.714G>C	XP_005259306.1:p.Leu238Phe
XM_011527306.2:c.714G>C	XP_011525608.1:p.Leu238Phe
XM_017027297.2:c.714G>C	XP_016882786.1:p.Leu238Phe
XM_024451707.1:c.714G>C	XP_024307475.1:p.Leu238Phe
NM_001039885.3:c.714G>C	NP_001034974.1:p.Leu238Phe
NM_024301.5:c.714G>C MANE Select	NP_077277.1:p.Leu238Phe