Canonical Allele Identifier: CA395202875

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 433492
• ClinVar RCV Id: RCV000499292
• dbSNP Id: rs1555523841
• MyVariant Identifiers: chr16:g.16317255C>A (hg19) ; chr16:g.16223398C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16223398C>A , CM000678.2:g.16223398C>A	GRCh38
NC_000016.9:g.16317255C>A , CM000678.1:g.16317255C>A	GRCh37
NC_000016.8:g.16224756C>A	NCBI36
NG_007558.2:g.5074G>T
NG_007558.3:g.5220G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574094.6:c.36+1G>T	ENSP00000507301.1:n.36+1G>T
ENST00000622290.5:c.36+1G>T	ENSP00000483331.2:n.36+1G>T
ENST00000205557.12:c.36+1G>T MANE Select	ENSP00000205557.7:n.36+1G>T
ENST00000205557.11:c.36+1G>T	ENSP00000205557.7:n.36+1G>T
ENST00000456970.6:c.36+1G>T	ENSP00000405002.2:n.36+1G>T
ENST00000574094.5:n.96+1G>T
ENST00000575728.1:c.36+1G>T	ENSP00000461686.1:n.36+1G>T
ENST00000577103.1:c.36+1G>T	ENSP00000459243.1:n.36+1G>T
ENST00000622290.4:c.36+1G>T	ENSP00000483331.1:n.36+1G>T
NM_001079528.3:c.36+1G>T	NP_001072996.1:n.36+1G>T
NM_001171.5:c.36+1G>T	NP_001162.4:n.36+1G>T
XM_011522479.1:c.36+1G>T	XP_011520781.1:n.36+1G>T
XM_011522482.1:c.36+1G>T	XP_011520784.1:n.36+1G>T
XR_932836.1:n.271+1G>T
XR_932837.1:n.272+1G>T
XR_932838.1:n.272+1G>T
NM_001079528.4:c.36+1G>T	NP_001072996.1:n.36+1G>T
NM_001351800.1:c.-338+1G>T	NP_001338729.1:n.-338+1G>T
NR_147784.1:n.73+1G>T
XM_011522479.2:c.36+1G>T	XP_011520781.1:n.36+1G>T
XM_011522482.3:c.36+1G>T	XP_011520784.1:n.36+1G>T
XM_017023212.1:c.36+1G>T	XP_016878701.1:n.36+1G>T
XM_017023214.1:c.36+1G>T	XP_016878703.1:n.36+1G>T
XM_024450261.1:c.36+1G>T	XP_024306029.1:n.36+1G>T
XR_932836.2:n.217+1G>T
XR_932837.3:n.217+1G>T
XR_932838.3:n.217+1G>T
NM_001171.6:c.36+1G>T MANE Select	NP_001162.5:n.36+1G>T