Canonical Allele Identifier: CA336338335

Gene: FGF13

Linked Data

• dbSNP Id: rs983004478
• gnomAD v2: X-138117394-C-T
• gnomAD v3: X-139035232-C-T
• gnomAD v4: X-139035232-C-T
• MyVariant Identifiers: chrX:g.138117394C>T (hg19) ; chrX:g.139035232C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.139035232C>T , CM000685.2:g.139035232C>T	GRCh38
NC_000023.10:g.138117394C>T , CM000685.1:g.138117394C>T	GRCh37
NC_000023.9:g.137945060C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000436198.6:c.49+168827G>A	ENSP00000396198.2:n.49+168827G>A
ENST00000441825.8:c.-148-44615G>A	ENSP00000409276.2:n.-148-44615G>A
ENST00000421460.1:c.-113+168184G>A	ENSP00000388688.1:n.-113+168184G>A
ENST00000436198.5:c.49+168827G>A	ENSP00000396198.2:n.49+168827G>A
ENST00000448673.1:c.49+168827G>A	ENSP00000411999.1:n.49+168827G>A
ENST00000626909.2:c.49+168827G>A	ENSP00000487411.1:n.49+168827G>A
NM_001139498.1:c.49+168827G>A	NP_001132970.1:n.49+168827G>A
NM_001139500.1:c.49+168827G>A	NP_001132972.1:n.49+168827G>A
NM_001139501.1:c.-148-44615G>A	NP_001132973.1:n.-148-44615G>A
XM_005262399.1:c.49+168827G>A	XP_005262456.1:n.49+168827G>A
XM_011531315.1:c.82+168184G>A	XP_011529617.1:n.82+168184G>A
XM_024452352.1:c.82+168184G>A	XP_024308120.1:n.82+168184G>A
NM_001139498.2:c.49+168827G>A	NP_001132970.1:n.49+168827G>A
NM_001139500.2:c.49+168827G>A	NP_001132972.1:n.49+168827G>A
NM_001139501.2:c.-148-44615G>A	NP_001132973.1:n.-148-44615G>A