Canonical Allele Identifier: CA1251480

Gene: SERPINC1

Linked Data

• dbSNP Id: rs748278166
• ExAC: 1:173884086 C / T
• gnomAD v2: 1-173884086-C-T
• gnomAD v4: 1-173914948-C-T
• MyVariant Identifiers: chr1:g.173884086C>T (hg19) ; chr1:g.173914948C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173914948C>T , CM000663.2:g.173914948C>T	GRCh38
NC_000001.10:g.173884086C>T , CM000663.1:g.173884086C>T	GRCh37
NC_000001.9:g.172150709C>T	NCBI36
NG_012462.1:g.7431G>A , LRG_577:g.7431G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000367698.4:c.42-29G>A MANE Select	ENSP00000356671.3:n.42-29G>A
ENST00000367698.3:c.42-29G>A	ENSP00000356671.3:n.42-29G>A
ENST00000494024.1:n.268-29G>A
ENST00000617423.4:c.42-29G>A	ENSP00000478688.1:n.42-29G>A
NM_000488.3:c.42-29G>A , LRG_577t1:c.42-29G>A	NP_000479.1:n.42-29G>A
XM_005245198.2:c.-103-29G>A	XP_005245255.1:n.-103-29G>A
NM_001365052.1:c.-103-29G>A	NP_001351981.1:n.-103-29G>A
NM_000488.4:c.42-29G>A MANE Select	NP_000479.1:n.42-29G>A
NM_001365052.2:c.-103-29G>A	NP_001351981.1:n.-103-29G>A
NM_001386302.1:c.42-29G>A	NP_001373231.1:n.42-29G>A
NM_001386303.1:c.123-29G>A	NP_001373232.1:n.123-29G>A
NM_001386304.1:c.42-29G>A	NP_001373233.1:n.42-29G>A
NM_001386305.1:c.42-29G>A	NP_001373234.1:n.42-29G>A
NM_001386306.1:c.42-29G>A	NP_001373235.1:n.42-29G>A