Canonical Allele Identifier: CA388786144

Gene: F7

Linked Data

• dbSNP Id: rs2036241025
• MyVariant Identifiers: chr13:g.113772921G>C (hg19) ; chr13:g.113118607G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118607G>C , CM000675.2:g.113118607G>C	GRCh38
NC_000013.10:g.113772921G>C , CM000675.1:g.113772921G>C	GRCh37
NC_000013.9:g.112820922G>C	NCBI36
NG_009258.1:g.809G>C , LRG_548:g.809G>C
NG_009262.1:g.17817G>C , LRG_554:g.17817G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.934G>C MANE Select	ENSP00000329546.4:p.Ala312Pro
ENST00000346342.7:c.934G>C	ENSP00000329546.3:p.Ala312Pro
ENST00000375581.3:c.1000G>C	ENSP00000364731.3:p.Ala334Pro
ENST00000541084.5:c.748G>C	ENSP00000442051.2:p.Ala250Pro
NM_000131.4:c.1000G>C , LRG_554t1:c.1000G>C	NP_000122.1:p.Ala334Pro
NM_001267554.1:c.748G>C	NP_001254483.1:p.Ala250Pro
NM_019616.3:c.934G>C , LRG_554t2:c.934G>C	NP_062562.1:p.Ala312Pro
NR_051961.1:n.1021G>C
XM_006719963.2:c.793G>C	XP_006720026.1:p.Ala265Pro
XM_011537474.1:c.1042G>C	XP_011535776.1:p.Ala348Pro
XM_011537475.1:c.856G>C	XP_011535777.1:p.Ala286Pro
XM_011537476.1:c.694G>C	XP_011535778.1:p.Ala232Pro
XM_011537477.1:c.1003G>C	XP_011535779.1:p.Ala335Pro
XM_006719963.3:c.838G>C	XP_006720026.2:p.Ala280Pro
XM_011537474.2:c.1087G>C	XP_011535776.2:p.Ala363Pro
XM_011537475.2:c.901G>C	XP_011535777.2:p.Ala301Pro
XM_011537476.2:c.694G>C	XP_011535778.1:p.Ala232Pro
NM_019616.4:c.934G>C MANE Select	NP_062562.1:p.Ala312Pro
NR_051961.2:n.1018G>C
NM_001267554.2:c.748G>C	NP_001254483.1:p.Ala250Pro