Canonical Allele Identifier: CA810643523

Gene: C7

Linked Data

• dbSNP Id: rs1266639554
• gnomAD v2: 5-40979745-T-C
• gnomAD v3: 5-40979643-T-C
• gnomAD v4: 5-40979643-T-C
• MyVariant Identifiers: chr5:g.40979745T>C (hg19) ; chr5:g.40979643T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.40979643T>C , CM000667.2:g.40979643T>C	GRCh38
NC_000005.9:g.40979745T>C , CM000667.1:g.40979745T>C	GRCh37
NC_000005.8:g.41015502T>C	NCBI36
NG_011692.1:g.75147T>C , LRG_30:g.75147T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696333.1:c.2166-82T>C	ENSP00000512566.1:n.2166-82T>C
ENST00000696441.1:c.2166-82T>C	ENSP00000512631.1:n.2166-82T>C
ENST00000696442.1:n.100-82T>C
ENST00000706664.1:n.2280-82T>C
ENST00000706666.1:n.2241+2803T>C
ENST00000706667.1:n.3056-82T>C
ENST00000706668.1:n.2894-82T>C
ENST00000313164.10:c.2166-82T>C MANE Select	ENSP00000322061.9:n.2166-82T>C
ENST00000313164.9:c.2166-82T>C	ENSP00000322061.9:n.2166-82T>C
ENST00000464864.1:n.179-82T>C
ENST00000494960.5:n.166-82T>C
NM_000587.2:c.2166-82T>C , LRG_30t1:c.2166-82T>C	NP_000578.2:n.2166-82T>C
XM_011514122.1:c.2166-82T>C	XP_011512424.1:n.2166-82T>C
NM_000587.3:c.2166-82T>C	NP_000578.2:n.2166-82T>C
NM_000587.4:c.2166-82T>C MANE Select	NP_000578.2:n.2166-82T>C