Canonical Allele Identifier: CA394891464

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 433456
• ClinVar RCV Id: RCV000499301
• dbSNP Id: rs763591743
• MyVariant Identifiers: chr16:g.16302666G>T (hg19) ; chr16:g.16208809G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16208809G>T , CM000678.2:g.16208809G>T	GRCh38
NC_000016.9:g.16302666G>T , CM000678.1:g.16302666G>T	GRCh37
NC_000016.8:g.16210167G>T	NCBI36
NG_007558.2:g.19663C>A
NG_007558.3:g.19809C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574094.6:c.713C>A	ENSP00000507301.1:p.Ser238Ter
ENST00000622290.5:c.713C>A	ENSP00000483331.2:p.Ser238Ter
ENST00000205557.12:c.713C>A MANE Select	ENSP00000205557.7:p.Ser238Ter
ENST00000205557.11:c.713C>A	ENSP00000205557.7:p.Ser238Ter
ENST00000456970.6:c.713C>A	ENSP00000405002.2:p.Ser238Ter
ENST00000574094.5:n.809C>A
ENST00000577103.1:c.*580C>A	ENSP00000459243.1:n.*580C>A
ENST00000622290.4:c.713C>A	ENSP00000483331.1:p.Ser238Ter
NM_001171.5:c.713C>A	NP_001162.4:p.Ser238Ter
XM_011522479.1:c.713C>A	XP_011520781.1:p.Ser238Ter
XM_011522480.1:c.371C>A	XP_011520782.1:p.Ser124Ter
XM_011522481.1:c.371C>A	XP_011520783.1:p.Ser124Ter
XM_011522482.1:c.713C>A	XP_011520784.1:p.Ser238Ter
XR_932836.1:n.948C>A
XR_932837.1:n.949C>A
XR_932838.1:n.949C>A
XR_933131.1:n.97-45G>T
XR_933132.1:n.97-45G>T
NM_001351800.1:c.371C>A	NP_001338729.1:p.Ser124Ter
NR_147784.1:n.750C>A
XM_011522479.2:c.713C>A	XP_011520781.1:p.Ser238Ter
XM_011522481.3:c.371C>A	XP_011520783.1:p.Ser124Ter
XM_011522482.3:c.713C>A	XP_011520784.1:p.Ser238Ter
XM_017023212.1:c.713C>A	XP_016878701.1:p.Ser238Ter
XM_017023214.1:c.713C>A	XP_016878703.1:p.Ser238Ter
XM_024450261.1:c.749C>A	XP_024306029.1:p.Ser250Ter
XR_001752340.1:n.105-45G>T
XR_001752341.1:n.105-45G>T
XR_001752342.1:n.105-45G>T
XR_932836.2:n.894C>A
XR_932837.3:n.894C>A
XR_932838.3:n.894C>A
XR_933131.2:n.105-45G>T
XR_933132.2:n.105-45G>T
NM_001171.6:c.713C>A MANE Select	NP_001162.5:p.Ser238Ter