Canonical Allele Identifier: CA394884592

Gene: ABCC6

Linked Data

• dbSNP Id: rs1234589159
• gnomAD v2: 16-16263591-G-C
• gnomAD v4: 16-16169734-G-C
• MyVariant Identifiers: chr16:g.16263591G>C (hg19) ; chr16:g.16169734G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169734G>C , CM000678.2:g.16169734G>C	GRCh38
NC_000016.9:g.16263591G>C , CM000678.1:g.16263591G>C	GRCh37
NC_000016.8:g.16171092G>C	NCBI36
NG_007558.2:g.58738C>G
NG_007558.3:g.58884C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2907C>G	ENSP00000483331.2:p.Ser969Arg
ENST00000205557.12:c.2907C>G MANE Select	ENSP00000205557.7:p.Ser969Arg
ENST00000205557.11:c.2907C>G	ENSP00000205557.7:p.Ser969Arg
ENST00000456970.6:c.2732C>G	ENSP00000405002.2:n.2732C>G
ENST00000622290.4:c.*116C>G	ENSP00000483331.1:n.*116C>G
NM_001171.5:c.2907C>G	NP_001162.4:p.Ser969Arg
XM_011522479.1:c.2874C>G	XP_011520781.1:p.Ser958Arg
XM_011522480.1:c.2565C>G	XP_011520782.1:p.Ser855Arg
XM_011522481.1:c.2565C>G	XP_011520783.1:p.Ser855Arg
XR_932836.1:n.3142C>G
XR_932837.1:n.3143C>G
XR_932838.1:n.3143C>G
NM_001351800.1:c.2565C>G	NP_001338729.1:p.Ser855Arg
NR_147784.1:n.2769C>G
XM_011522479.2:c.2874C>G	XP_011520781.1:p.Ser958Arg
XM_011522481.3:c.2565C>G	XP_011520783.1:p.Ser855Arg
XM_017023212.1:c.2739C>G	XP_016878701.1:p.Ser913Arg
XM_017023214.1:c.2907C>G	XP_016878703.1:p.Ser969Arg
XM_024450261.1:c.2943C>G	XP_024306029.1:p.Ser981Arg
XR_932836.2:n.3088C>G
XR_932837.3:n.3088C>G
XR_932838.3:n.3088C>G
NM_001171.6:c.2907C>G MANE Select	NP_001162.5:p.Ser969Arg