Canonical Allele Identifier: CA278645357
Gene: ABCC6 HGNC NCBI

Linked Data

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

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
Search 100 bp 5'
Search 100 bp 3'