Canonical Allele Identifier: CA336338334

Gene: FGF13

Linked Data

• dbSNP Id: rs775727044
• gnomAD v2: X-138117374-C-G
• gnomAD v3: X-139035212-C-G
• gnomAD v4: X-139035212-C-G
• MyVariant Identifiers: chrX:g.138117374C>G (hg19) ; chrX:g.139035212C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.139035212C>G , CM000685.2:g.139035212C>G	GRCh38
NC_000023.10:g.138117374C>G , CM000685.1:g.138117374C>G	GRCh37
NC_000023.9:g.137945040C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000436198.6:c.49+168847G>C	ENSP00000396198.2:n.49+168847G>C
ENST00000441825.8:c.-148-44595G>C	ENSP00000409276.2:n.-148-44595G>C
ENST00000421460.1:c.-113+168204G>C	ENSP00000388688.1:n.-113+168204G>C
ENST00000436198.5:c.49+168847G>C	ENSP00000396198.2:n.49+168847G>C
ENST00000448673.1:c.49+168847G>C	ENSP00000411999.1:n.49+168847G>C
ENST00000626909.2:c.49+168847G>C	ENSP00000487411.1:n.49+168847G>C
NM_001139498.1:c.49+168847G>C	NP_001132970.1:n.49+168847G>C
NM_001139500.1:c.49+168847G>C	NP_001132972.1:n.49+168847G>C
NM_001139501.1:c.-148-44595G>C	NP_001132973.1:n.-148-44595G>C
XM_005262399.1:c.49+168847G>C	XP_005262456.1:n.49+168847G>C
XM_011531315.1:c.82+168204G>C	XP_011529617.1:n.82+168204G>C
XM_024452352.1:c.82+168204G>C	XP_024308120.1:n.82+168204G>C
NM_001139498.2:c.49+168847G>C	NP_001132970.1:n.49+168847G>C
NM_001139500.2:c.49+168847G>C	NP_001132972.1:n.49+168847G>C
NM_001139501.2:c.-148-44595G>C	NP_001132973.1:n.-148-44595G>C