Canonical Allele Identifier: CA600186867

Gene: FCHSD2

Linked Data

• dbSNP Id: rs1454945132
• gnomAD v2: 11-72670836-A-G
• gnomAD v3: 11-72959791-A-G
• gnomAD v4: 11-72959791-A-G
• MyVariant Identifiers: chr11:g.72670836A>G (hg19) ; chr11:g.72959791A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72959791A>G , CM000673.2:g.72959791A>G	GRCh38
NC_000011.9:g.72670836A>G , CM000673.1:g.72670836A>G	GRCh37
NC_000011.8:g.72348484A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409418.9:c.705+24297T>C MANE Select	ENSP00000386722.4:n.705+24297T>C
ENST00000311172.11:c.537+24297T>C	ENSP00000308978.7:n.537+24297T>C
ENST00000409314.5:c.705+24297T>C	ENSP00000386987.1:n.705+24297T>C
ENST00000409418.8:c.705+24297T>C	ENSP00000386722.4:n.705+24297T>C
ENST00000409853.5:c.537+24297T>C	ENSP00000386314.1:n.537+24297T>C
ENST00000458644.6:c.225+24297T>C	ENSP00000402972.2:n.225+24297T>C
NM_014824.2:c.705+24297T>C	NP_055639.2:n.705+24297T>C
XM_011545409.1:c.642+24297T>C	XP_011543711.1:n.642+24297T>C
XM_011545410.1:c.630+24297T>C	XP_011543712.1:n.630+24297T>C
XM_011545411.1:c.471+24297T>C	XP_011543713.1:n.471+24297T>C
XM_011545412.1:c.705+24297T>C	XP_011543714.1:n.705+24297T>C
XM_011545410.2:c.630+24297T>C	XP_011543712.1:n.630+24297T>C
XM_017018632.1:c.642+24297T>C	XP_016874121.1:n.642+24297T>C
XR_001748055.1:n.1510+24297T>C
NM_014824.3:c.705+24297T>C MANE Select	NP_055639.2:n.705+24297T>C