Canonical Allele Identifier: CA358941987

Gene: F11

Linked Data

• dbSNP Id: rs1366342553
• gnomAD v2: 4-187205346-G-C
• gnomAD v4: 4-186284192-G-C
• MyVariant Identifiers: chr4:g.187205346G>C (hg19) ; chr4:g.186284192G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186284192G>C , CM000666.2:g.186284192G>C	GRCh38
NC_000004.11:g.187205346G>C , CM000666.1:g.187205346G>C	GRCh37
NC_000004.10:g.187442340G>C	NCBI36
NG_008051.1:g.23229G>C , LRG_583:g.23229G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403665.7:c.1236G>C MANE Select	ENSP00000384957.2:p.Gln412His
ENST00000264692.8:c.1074G>C	ENSP00000264692.5:p.Gln358His
ENST00000403665.6:c.1236G>C	ENSP00000384957.2:p.Gln412His
NM_000128.3:c.1236G>C , LRG_583t1:c.1236G>C	NP_000119.1:p.Gln412His
XM_005262821.2:c.1239G>C	XP_005262878.1:p.Gln413His
XM_005262822.2:c.1239G>C	XP_005262879.1:p.Gln413His
XM_005262823.2:c.969G>C	XP_005262880.1:p.Gln323His
XM_005262824.1:c.1239G>C	XP_005262881.1:p.Gln413His
XM_006714137.1:c.1191G>C	XP_006714200.1:p.Gln397His
XR_938706.1:n.1644G>C
XR_938707.1:n.1644G>C
XM_005262821.4:c.1239G>C	XP_005262878.1:p.Gln413His
XM_005262822.4:c.1239G>C	XP_005262879.1:p.Gln413His
XM_005262823.4:c.969G>C	XP_005262880.1:p.Gln323His
XM_006714137.3:c.1191G>C	XP_006714200.1:p.Gln397His
XR_001741172.2:n.1710G>C
NM_000128.4:c.1236G>C MANE Select	NP_000119.1:p.Gln412His