Canonical Allele Identifier: CA388785985

Gene: F7

Linked Data

• MyVariant Identifiers: chr13:g.113772838T>C (hg19) ; chr13:g.113118524T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118524T>C , CM000675.2:g.113118524T>C	GRCh38
NC_000013.10:g.113772838T>C , CM000675.1:g.113772838T>C	GRCh37
NC_000013.9:g.112820839T>C	NCBI36
NG_009258.1:g.726T>C , LRG_548:g.726T>C
NG_009262.1:g.17734T>C , LRG_554:g.17734T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.851T>C MANE Select	ENSP00000329546.4:p.Leu284Pro
ENST00000346342.7:c.851T>C	ENSP00000329546.3:p.Leu284Pro
ENST00000375581.3:c.917T>C	ENSP00000364731.3:p.Leu306Pro
ENST00000541084.5:c.665T>C	ENSP00000442051.2:p.Leu222Pro
NM_000131.4:c.917T>C , LRG_554t1:c.917T>C	NP_000122.1:p.Leu306Pro
NM_001267554.1:c.665T>C	NP_001254483.1:p.Leu222Pro
NM_019616.3:c.851T>C , LRG_554t2:c.851T>C	NP_062562.1:p.Leu284Pro
NR_051961.1:n.938T>C
XM_006719963.2:c.710T>C	XP_006720026.1:p.Leu237Pro
XM_011537474.1:c.959T>C	XP_011535776.1:p.Leu320Pro
XM_011537475.1:c.773T>C	XP_011535777.1:p.Leu258Pro
XM_011537476.1:c.611T>C	XP_011535778.1:p.Leu204Pro
XM_011537477.1:c.920T>C	XP_011535779.1:p.Leu307Pro
XM_006719963.3:c.755T>C	XP_006720026.2:p.Leu252Pro
XM_011537474.2:c.1004T>C	XP_011535776.2:p.Leu335Pro
XM_011537475.2:c.818T>C	XP_011535777.2:p.Leu273Pro
XM_011537476.2:c.611T>C	XP_011535778.1:p.Leu204Pro
NM_019616.4:c.851T>C MANE Select	NP_062562.1:p.Leu284Pro
NR_051961.2:n.935T>C
NM_001267554.2:c.665T>C	NP_001254483.1:p.Leu222Pro