Canonical Allele Identifier: CA394875950

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16154986-T-C
• MyVariant Identifiers: chr16:g.16248843T>C (hg19) ; chr16:g.16154986T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154986T>C , CM000678.2:g.16154986T>C	GRCh38
NC_000016.9:g.16248843T>C , CM000678.1:g.16248843T>C	GRCh37
NC_000016.8:g.16156344T>C	NCBI36
NG_007558.2:g.73486A>G
NG_007558.3:g.73632A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.791A>G
ENST00000622290.5:c.*100A>G	ENSP00000483331.2:n.*100A>G
ENST00000205557.12:c.3928A>G MANE Select	ENSP00000205557.7:p.Ser1310Gly
ENST00000640696.1:c.742A>G	ENSP00000492197.1:p.Ser248Gly
ENST00000205557.11:c.3928A>G	ENSP00000205557.7:p.Ser1310Gly
ENST00000456970.6:c.3553A>G	ENSP00000405002.2:n.3553A>G
ENST00000576204.5:n.791A>G
ENST00000622290.4:c.*1137A>G	ENSP00000483331.1:n.*1137A>G
NM_001171.5:c.3928A>G	NP_001162.4:p.Ser1310Gly
XM_011522479.1:c.3895A>G	XP_011520781.1:p.Ser1299Gly
XM_011522480.1:c.3586A>G	XP_011520782.1:p.Ser1196Gly
XM_011522481.1:c.3586A>G	XP_011520783.1:p.Ser1196Gly
XR_932836.1:n.4226A>G
XR_932837.1:n.3964A>G
XR_932838.1:n.4027A>G
XR_933134.1:n.539-4795T>C
NM_001351800.1:c.3586A>G	NP_001338729.1:p.Ser1196Gly
NR_147784.1:n.3590A>G
XM_011522479.2:c.3895A>G	XP_011520781.1:p.Ser1299Gly
XM_011522481.3:c.3586A>G	XP_011520783.1:p.Ser1196Gly
XM_017023212.1:c.3760A>G	XP_016878701.1:p.Ser1254Gly
XM_024450261.1:c.3964A>G	XP_024306029.1:p.Ser1322Gly
XR_932836.2:n.4172A>G
XR_932837.3:n.3909A>G
XR_932838.3:n.3972A>G
NM_001171.6:c.3928A>G MANE Select	NP_001162.5:p.Ser1310Gly