Canonical Allele Identifier: CA278645357

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 433270
• ClinVar RCV Id: RCV000499365 ; RCV003558406
• dbSNP Id: rs66492417
• gnomAD v4: 16-16178909-G-T
• MyVariant Identifiers: chr16:g.16272766G>T (hg19) ; chr16:g.16178909G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16178909G>T , CM000678.2:g.16178909G>T	GRCh38
NC_000016.9:g.16272766G>T , CM000678.1:g.16272766G>T	GRCh37
NC_000016.8:g.16180267G>T	NCBI36
NG_007558.2:g.49563C>A
NG_007558.3:g.49709C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2304C>A	ENSP00000483331.2:p.Tyr768Ter
ENST00000205557.12:c.2304C>A MANE Select	ENSP00000205557.7:p.Tyr768Ter
ENST00000205557.11:c.2304C>A	ENSP00000205557.7:p.Tyr768Ter
ENST00000456970.6:c.2304C>A	ENSP00000405002.2:p.Tyr768Ter
ENST00000622290.4:c.2304C>A	ENSP00000483331.1:p.Tyr768Ter
NM_001171.5:c.2304C>A	NP_001162.4:p.Tyr768Ter
XM_011522479.1:c.2304C>A	XP_011520781.1:p.Tyr768Ter
XM_011522480.1:c.1962C>A	XP_011520782.1:p.Tyr654Ter
XM_011522481.1:c.1962C>A	XP_011520783.1:p.Tyr654Ter
XM_011522482.1:c.2304C>A	XP_011520784.1:p.Tyr768Ter
XR_932836.1:n.2539C>A
XR_932837.1:n.2540C>A
XR_932838.1:n.2540C>A
NM_001351800.1:c.1962C>A	NP_001338729.1:p.Tyr654Ter
NR_147784.1:n.2341C>A
XM_011522479.2:c.2304C>A	XP_011520781.1:p.Tyr768Ter
XM_011522481.3:c.1962C>A	XP_011520783.1:p.Tyr654Ter
XM_011522482.3:c.2304C>A	XP_011520784.1:p.Tyr768Ter
XM_017023212.1:c.2248-1283C>A	XP_016878701.1:n.2248-1283C>A
XM_017023214.1:c.2304C>A	XP_016878703.1:p.Tyr768Ter
XM_024450261.1:c.2340C>A	XP_024306029.1:p.Tyr780Ter
XR_932836.2:n.2485C>A
XR_932837.3:n.2485C>A
XR_932838.3:n.2485C>A
NM_001171.6:c.2304C>A MANE Select	NP_001162.5:p.Tyr768Ter